A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3639162



Internal ID6679257
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:77166834..77194282hg38UCSC Ensembl
chr16:77200731..77228179hg19UCSC Ensembl
Cytoband16q23.1
Allele length
AssemblyAllele length
hg3827449
hg1927449
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv15528231, essv15528224, essv15528242, essv15528253, essv15528234, essv15528229, essv15528237, essv15528238, essv15528251, essv15528241, essv15528249, essv15528243, essv15528226, essv15528235, essv15528239, essv15528246, essv15528247, essv15528230, essv15528240, essv15528232, essv15528233, essv15528227, essv15528236, essv15528245, essv15528250, essv15528252, essv15528228, essv15528244, essv15528248, essv15528225
SamplesHG01860, NA18999, NA18526, HG00589, HG03808, HG01843, HG01816, HG00590, HG00867, HG02067, NA18986, NA18640, HG00530, HG02402, HG02166, NA19070, HG00657, HG01845, HG00583, HG01852, NA18981, NA19000, HG02399, NA19012, HG04134, NA18615, HG00409, HG01799, HG00437, NA18965
Known GenesMON1B
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3639162
Frequency
Sample Size2504
Observed Gain30
Observed Loss0
Observed Complex0
Frequencyn/a


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