A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2674110



Internal ID9940215
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr9:68583900..68586006hg38UCSC Ensembl
Outerchr9:68583529..68586376hg38UCSC Ensembl
Innerchr9:71198816..71200922hg19UCSC Ensembl
Outerchr9:71198445..71201292hg19UCSC Ensembl
Cytoband9q21.11
Allele length
AssemblyAllele length
hg382848
hg192848
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5460996, essv6229278, essv6343679, essv5477853, essv6394702, essv6366488, essv6201999, essv6483826, essv5793187, essv5739092, essv5467342, essv5635429, essv5489545, essv6401932, essv5432680, essv5771646, essv6152508, essv6219147, essv5538470, essv5566398, essv5877291, essv5573780, essv5526205, essv6441904, essv6200407
SamplesHG01441, HG01356, HG01389, HG01374, HG01465, HG01461, HG01140, HG01350, HG01366, HG01351, HG01354, HG01365, HG01134, HG01440, HG01124, HG01353, HG01136, HG01149, HG01390, HG01383, HG01148, HG01357, HG01375, HG01137, HG01491
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2674110
Frequency
Sample Size1151
Observed Gain0
Observed Loss25
Observed Complex0
Frequencyn/a


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