A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3638625



Internal ID7025410
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:52259630..52260469hg38UCSC Ensembl
Innerchr16:52259654..52260445hg38UCSC Ensembl
Outerchr16:52259606..52260493hg38UCSC Ensembl
chr16:52293542..52294381hg19UCSC Ensembl
Innerchr16:52293566..52294357hg19UCSC Ensembl
Outerchr16:52293518..52294405hg19UCSC Ensembl
Cytoband16q12.1
Allele length
AssemblyAllele length
hg38840
hg19840
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv15478268, essv15478257, essv15478263, essv15478270, essv15478271, essv15478261, essv15478262, essv15478267, essv15478265, essv15478266, essv15478258, essv15478274, essv15478272, essv15478264, essv15478273, essv15478259, essv15478269, essv15478260
SamplesHG03767, HG03009, HG01350, HG01366, HG01351, HG00129, NA07347, HG00309, HG03585, HG01384, HG01119, NA20770, HG01311, HG01536, HG03745, HG01363, HG00638, NA20827
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3638625
Frequency
Sample Size2504
Observed Gain0
Observed Loss18
Observed Complex0
Frequencyn/a


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