A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12745683



Internal ID6382078
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:39145835..39229377hg38UCSC Ensembl
Innerchr7:39145841..39229372hg38UCSC Ensembl
Outerchr7:39145830..39229383hg38UCSC Ensembl
chr7:39185435..39268976hg19UCSC Ensembl
Innerchr7:39185441..39268971hg19UCSC Ensembl
Outerchr7:39185430..39268982hg19UCSC Ensembl
Cytoband7p14.1
Allele length
AssemblyAllele length
hg3883543
hg1983542
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3612896
Supporting Variants
SamplesNA20320
Known GenesPOU6F2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12745683
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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