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QT_2040789 (FeatureServer)

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Service Description: Exome of rare disease patient from Qatar. QT_2040789

Service ItemId: aff82ae04412496bab8635783443ef61

Has Versioned Data: false

Max Record Count: 2000

Supported query Formats: JSON

Supports applyEdits with GlobalIds: False

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Layers:

Description:

Exome mutations for a rare disease patient from Qatar . .

Approximately 200k records. Recommended map layer visibility be set below 1:50,000 on zoom

Note - figurative map scale. 0.1 map units = 1 DNA base pair

Original .VCF in HG19 has been projected into Lat Long coordinates that align with GRCh38.

Patient data (.vcf) provided by parent. and transformed into map layer per parent request. Contact info@dnacompass.com with any questions and reference QT_2040789.

.VCF file created by GeneDX: Date=Thu Oct 3 02:29:32 2019

##fileformat=VCFv4.2

##ALT=<ID=*,Description="Represents allele(s) other than observed.">

##ALT=<ID=DEL,Description="Deletion">

##ALT=<ID=DUP:TANDEM,Description="Tandem Duplication">

##ALT=<ID=INS,Description="Insertion of novel sequence">

##ALT=<ID=INS:ME:ALU,Description="Insertion of ALU element">

##ALT=<ID=INS:ME:L1,Description="Insertion of L1 element">

##ALT=<ID=INS:ME:SVA,Description="Insertion of SVA element">

##ALT=<ID=INV,Description="Inversion">

##FILTER=<ID=LowQual,Description="Low quality">

##FILTER=<ID=OffExome,Description="Variant off-exome in all effect predictions">

##FILTER=<ID=PASS,Description="All filters passed">

##FILTER=<ID=VQSRTrancheINDEL99.00to99.90,Description="Truth sensitivity tranche level for INDEL model at VQS Lod: -5.1934 <= x < -2.6141">

##FILTER=<ID=VQSRTrancheINDEL99.90to100.00+,Description="Truth sensitivity tranche level for INDEL model at VQS Lod < -80.1315">

##FILTER=<ID=VQSRTrancheINDEL99.90to100.00,Description="Truth sensitivity tranche level for INDEL model at VQS Lod: -80.1315 <= x < -5.1934">

##FILTER=<ID=VQSRTrancheSNP99.00to99.90,Description="Truth sensitivity tranche level for SNP model at VQS Lod: -14.9539 <= x < -1.1747">

##FILTER=<ID=VQSRTrancheSNP99.90to100.00+,Description="Truth sensitivity tranche level for SNP model at VQS Lod < -5505.6664">

##FILTER=<ID=VQSRTrancheSNP99.90to100.00,Description="Truth sensitivity tranche level for SNP model at VQS Lod: -5505.6664 <= x < -14.9539">

##FORMAT=<ID=AD,Number=R,Type=Integer,Description="Allelic depths for the ref and alt alleles in the order listed">

##FORMAT=<ID=ADF,Number=R,Type=Integer,Description="Allelic depths on the forward strand">

##FORMAT=<ID=ADR,Number=R,Type=Integer,Description="Allelic depths on the reverse strand">

##FORMAT=<ID=DP,Number=1,Type=Integer,Description="Read Depth">

##FORMAT=<ID=GQ,Number=1,Type=Integer,Description="Genotype Quality">

##FORMAT=<ID=GT,Number=1,Type=String,Description="Genotype">

##FORMAT=<ID=LSC,Number=A,Type=Integer,Description="Number of soft clipped reads in left soft clipped cluster">

##FORMAT=<ID=PL,Number=G,Type=Integer,Description="List of Phred-scaled genotype likelihoods">

##FORMAT=<ID=RSC,Number=A,Type=Integer,Description="Number of soft clipped reads in right soft clipped cluster">

##FORMAT=<ID=SP,Number=1,Type=Integer,Description="Phred-scaled strand bias P-value">



Copyright Text: Spatial transformation of .vcf by DNA Compass, Alice Rathjen, data provided by patient parent. .VCF file for exome generated by GeneDX.

Spatial Reference: 102100 (3857)

Initial Extent:
Full Extent:
Units: esriMeters

Child Resources:   Info

Supported Operations:   Query   Create Replica