A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3615683



Internal ID7002572
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:157155780..157157658hg38UCSC Ensembl
Innerchr7:157155789..157157650hg38UCSC Ensembl
Outerchr7:157155772..157157667hg38UCSC Ensembl
chr7:156948474..156950352hg19UCSC Ensembl
Innerchr7:156948483..156950344hg19UCSC Ensembl
Outerchr7:156948466..156950361hg19UCSC Ensembl
Cytoband7q36.3
Allele length
AssemblyAllele length
hg381879
hg191879
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv13040079, essv13040077, essv13040078, essv13040081, essv13040080, essv13040076
SamplesNA19378, HG03518, HG02502, HG03511, NA19982, NA19713
Known GenesUBE3C
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3615683
Frequency
Sample Size2504
Observed Gain0
Observed Loss6
Observed Complex0
Frequencyn/a


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