A curated catalogue of human genomic structural variation

Variant Details

Variant: esv2672388

Internal ID9591807
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:79598419..79600625hg38UCSC Ensembl
Outerchr16:79598048..79600995hg38UCSC Ensembl
Innerchr16:79632316..79634522hg19UCSC Ensembl
Outerchr16:79631945..79634892hg19UCSC Ensembl
Allele length
AssemblyAllele length
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6278123, essv6009497, essv5694459, essv5994837, essv6114538, essv6108832, essv6585118, essv5827609, essv5424579, essv6017177, essv6233089, essv5558064, essv5444543, essv5499194, essv6262203, essv6254882, essv6595624, essv6527369, essv6133185, essv5396566, essv5829410, essv5913306, essv5420058, essv5888403, essv5523014, essv6251216, essv5794942, essv5703102, essv5963917, essv5779288, essv5929844, essv5716926, essv6376084, essv6476234, essv5768756, essv5512945, essv6072204, essv6276081, essv5660657, essv6212901, essv6226177, essv5762470, essv5484354, essv6004648, essv6365243, essv6554713
SamplesHG01357, HG01441, HG01359, HG01440, HG01250, HG01353, HG01342, HG01389, HG01365, HG01492, HG01488, HG01491, HG01350, HG01461, HG01134, HG01551, HG01254, HG01550, HG01148, HG01384, HG01140, HG01456, HG01375, HG01378, HG01495, HG01124, HG01360, HG01113, HG01136, HG01437, HG01465, HG01356, HG01351, HG01494, HG01383, HG01149, HG01112, HG01390, HG01366, HG01125, HG01498, HG01374, HG01462, HG01489, HG01377, HG01354
Known GenesMAF
AnalysisNo reference, merging analysis
CommentsHigh quality site
Pubmed ID23128226
Accession Number(s)esv2672388
Sample Size1151
Observed Gain0
Observed Loss46
Observed Complex0

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