A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12908922



Internal ID6696226
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:100213833..100241396hg38UCSC Ensembl
chr7:99811456..99839019hg19UCSC Ensembl
Cytoband7q22.1
Allele length
AssemblyAllele length
hg3827564
hg1927564
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3614292
Supporting Variants
SamplesNA20822
Known GenesGATS, PVRIG, STAG3
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12908922
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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