A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3638140



Internal ID7024926
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:20439838..20440656hg38UCSC Ensembl
Innerchr16:20439838..20440656hg38UCSC Ensembl
Outerchr16:20439469..20441049hg38UCSC Ensembl
chr16:20451160..20451978hg19UCSC Ensembl
Innerchr16:20451160..20451978hg19UCSC Ensembl
Outerchr16:20450791..20452371hg19UCSC Ensembl
Cytoband16p12.3
Allele length
AssemblyAllele length
hg38819
hg19819
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv15402343, essv15402356, essv15402351, essv15402341, essv15402337, essv15402375, essv15402366, essv15402350, essv15402339, essv15402354, essv15402345, essv15402338, essv15402344, essv15402363, essv15402346, essv15402359, essv15402373, essv15402365, essv15402370, essv15402340, essv15402358, essv15402362, essv15402357, essv15402372, essv15402369, essv15402348, essv15402361, essv15402347, essv15402342, essv15402336, essv15402371, essv15402352, essv15402349, essv15402368, essv15402364, essv15402367, essv15402360, essv15402374, essv15402355, essv15402353
SamplesNA20762, NA11830, NA11920, HG00103, NA20805, HG00177, HG00261, HG01702, HG00173, NA20774, HG00369, NA12282, HG00106, HG02224, NA20812, HG00266, HG00183, HG02793, NA19670, HG03007, HG01790, NA20810, NA19655, HG00117, HG01705, NA12778, HG01625, HG00376, HG03238, HG01131, HG00366, NA12272, HG00237, HG03779, HG00288, NA21133, HG00112, HG01617, HG01377, HG01509
Known GenesACSM5
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3638140
Frequency
Sample Size2504
Observed Gain0
Observed Loss40
Observed Complex0
Frequencyn/a


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