A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2664429



Internal ID9930534
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:12261254..12261431hg38UCSC Ensembl
Outerchr16:12261097..12261588hg38UCSC Ensembl
Innerchr16:12355111..12355288hg19UCSC Ensembl
Outerchr16:12354954..12355445hg19UCSC Ensembl
Cytoband16p13.13
Allele length
AssemblyAllele length
hg38492
hg19492
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6286944, essv6435365, essv5763821, essv5413140, essv6319838, essv5410308, essv6041784, essv5432881, essv5902910, essv6151265, essv6201315, essv5566840, essv6334810, essv5809663, essv6038957, essv5599799, essv5962879, essv6551018, essv5585615, essv6535019, essv6347706, essv6122154, essv5546455, essv5752030, essv6466285, essv5403175, essv5912244, essv5408101, essv5984139, essv5623054, essv6115564, essv5822217, essv6092214, essv6447081, essv6434702, essv6212651, essv6321155, essv5778378, essv6461585, essv5838298, essv5593889, essv5574220, essv5473671, essv5418395, essv5936162, essv5962806, essv5581090, essv6281227, essv5962624, essv6273321, essv6293503, essv6280006
SamplesNA18502, HG01173, HG00608, NA19664, NA18508, HG01359, HG00559, NA19399, HG01188, HG00640, HG00654, NA19319, HG01351, NA19457, HG01083, HG01365, NA19384, NA18964, NA19383, HG01072, NA19731, NA19985, HG00328, NA19462, HG00732, HG00708, HG00284, HG00273, HG00690, HG00152, NA19452, HG00704, NA18523, HG01107, NA19401, NA19375, HG00119, NA19390, HG00580, NA19428, HG01137, HG01108, NA19818, NA19785, NA20289, NA20786, NA19213, HG00343, HG01251, NA18989, NA19463, NA18522
Known GenesSNX29
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2664429
Frequency
Sample Size1151
Observed Gain0
Observed Loss52
Observed Complex0
Frequencyn/a


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