A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2673479



Internal ID9939584
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:55747067..55747943hg38UCSC Ensembl
Outerchr16:55747028..55748000hg38UCSC Ensembl
Innerchr16:55780979..55781855hg19UCSC Ensembl
Outerchr16:55780940..55781912hg19UCSC Ensembl
Cytoband16q12.2
Allele length
AssemblyAllele length
hg38973
hg19973
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6090706, essv5725303, essv5490448, essv5892719, essv5776542, essv5408611, essv6514501, essv5563318, essv5829741, essv5554650, essv6019664, essv5421980, essv5471762, essv6439619, essv5836854, essv5479141, essv6001704, essv5764409, essv6201478, essv5777810, essv5689232, essv5994683, essv5769106, essv6449341, essv5467219, essv6510403, essv5572990, essv6053514, essv5858440, essv5402549, essv5648614, essv6034397, essv5594282, essv5412773, essv6024394, essv5987326, essv6440836, essv6039195, essv5513074, essv5642826, essv6552773, essv5813370, essv5713354, essv5935967, essv5608621, essv6305794
SamplesNA11830, HG01521, HG01052, HG00187, NA19355, NA19377, HG00654, NA19381, NA18489, NA20798, NA19448, NA19197, HG01354, NA20759, NA19651, HG00683, HG00534, NA19235, HG00118, NA18867, HG01550, HG01171, HG00245, HG00436, NA19982, HG00320, HG00533, HG01498, NA19788, NA20506, HG00619, HG00331, HG01101, HG00157, HG00704, NA19318, HG01253, HG00278, HG00607, HG01108, HG01491, HG00174, NA19726, NA19780, HG01082, HG00593
Known GenesCES1P2
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2673479
Frequency
Sample Size1151
Observed Gain0
Observed Loss46
Observed Complex0
Frequencyn/a


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