A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12908923



Internal ID4302818
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:100215867..100342885hg38UCSC Ensembl
Innerchr7:100216017..100342735hg38UCSC Ensembl
Outerchr7:100215717..100343035hg38UCSC Ensembl
chr7:99813490..99940508hg19UCSC Ensembl
Innerchr7:99813640..99940358hg19UCSC Ensembl
Outerchr7:99813340..99940658hg19UCSC Ensembl
Cytoband7q22.1
Allele length
AssemblyAllele length
hg38127019
hg19127019
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3614293
Supporting Variants
SamplesHG03861
Known GenesGATS, PMS2P1, PVRIG, SPDYE3, STAG3L5P, STAG3L5P-PVRIG2P-PILRB
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12908923
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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