A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2657578



Internal ID9576997
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:89834259..89834687hg38UCSC Ensembl
Outerchr16:89834102..89834840hg38UCSC Ensembl
Innerchr16:89900667..89901095hg19UCSC Ensembl
Outerchr16:89900510..89901248hg19UCSC Ensembl
Cytoband16q24.3
Allele length
AssemblyAllele length
hg38739
hg19739
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5902520, essv6417140, essv6442188, essv6563471, essv6469416, essv6426708, essv5645975, essv6033443, essv6506559, essv6163226, essv6207461, essv6108015, essv6513024, essv6339086, essv6459602, essv6424985, essv6486325, essv5887654, essv5722012, essv6371500, essv5996789, essv6554724, essv5853683, essv6015158, essv5403648, essv6181462, essv5560265, essv6396614, essv6210811, essv5567022, essv6490500, essv6151812, essv5447720, essv6248798, essv5546056, essv6167129, essv6007997, essv5527818, essv6191412, essv5948298, essv5673951, essv6594559, essv5893794, essv6400579, essv5808676, essv6591080, essv6371667, essv5959913, essv5930095, essv5492296, essv6214842, essv5747412, essv6219895, essv5814943, essv6420425, essv5646180, essv6379321, essv5431272, essv5537628, essv6108470, essv5802313, essv6554000, essv5910531, essv6297813
SamplesHG00323, HG01357, HG01441, NA12718, HG00252, NA12342, HG01342, HG00310, HG00117, HG01491, NA19920, NA19834, HG00111, HG00334, NA19678, HG00280, NA19355, HG00188, HG01171, NA19776, HG00353, NA20586, HG00269, HG00244, HG00154, HG01107, NA20819, NA19675, HG00140, HG00180, HG01048, HG01061, HG00231, HG01047, HG00637, NA19457, HG00237, NA19684, HG00114, NA19676, HG00108, HG01066, HG00732, NA12275, HG01170, NA20828, HG01351, HG00246, HG00377, HG00236, HG01095, HG01334, HG00580, NA19818, HG01390, NA12399, HG00367, NA18549, HG01374, NA19350, HG01462, HG00345, HG00136, HG01067
Known GenesSPIRE2
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2657578
Frequency
Sample Size1151
Observed Gain0
Observed Loss64
Observed Complex0
Frequencyn/a


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