A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2677342



Internal ID9943447
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:14300959..14303465hg38UCSC Ensembl
Outerchr16:14300588..14303835hg38UCSC Ensembl
Innerchr16:14394816..14397322hg19UCSC Ensembl
Outerchr16:14394445..14397692hg19UCSC Ensembl
Cytoband16p13.12
Allele length
AssemblyAllele length
hg383248
hg193248
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6510047, essv6342828, essv5850611, essv6108639, essv5599181, essv6116893, essv5470554, essv5978223, essv6320421, essv5901281, essv6096250, essv6543622, essv5813551, essv6544862, essv5491985, essv5535851, essv5501478, essv6454153, essv6308401, essv5546909, essv6410713, essv5598637, essv5407832, essv6118539, essv6009792, essv6183021, essv5474876, essv5438341, essv5785653, essv5564871, essv5633548, essv5969722, essv5726781, essv6531142, essv6269797, essv5754684, essv5549836, essv5992783, essv5751475, essv6132337, essv6340435, essv5662880, essv5742411, essv6475586, essv5653801, essv5604710, essv5519954, essv5844516, essv5987688, essv6099677, essv5477769, essv5438462, essv5545373, essv6014142, essv6070220, essv6565435, essv6273580, essv5713280, essv5527596
SamplesHG00231, HG00142, HG00249, HG00242, HG00100, HG00257, HG00151, HG00244, HG00150, HG00261, HG00138, HG00122, HG00243, HG00158, HG00139, HG00120, HG00148, HG00106, HG00236, HG00156, HG00262, HG00232, HG00160, HG00118, HG00159, HG00253, HG00264, HG00108, HG00260, HG00137, HG00133, HG00154, HG00149, HG00263, HG00239, HG00250, HG00117, HG00157, HG00140, HG01334, HG00146, HG00246, HG00126, HG00258, HG00124, HG00155, HG00254, HG00119, HG00265, HG00136, HG00237, HG00256, HG00125, HG00111, HG00259, HG00123, HG00112, HG00131, HG00252
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2677342
Frequency
Sample Size1151
Observed Gain0
Observed Loss59
Observed Complex0
Frequencyn/a


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