A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2674323



Internal ID9940428
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr9:76940400..76942906hg38UCSC Ensembl
Outerchr9:76940029..76943276hg38UCSC Ensembl
Innerchr9:79555316..79557822hg19UCSC Ensembl
Outerchr9:79554945..79558192hg19UCSC Ensembl
Cytoband9q21.2
Allele length
AssemblyAllele length
hg383248
hg193248
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1353e199
Supporting Variantsessv6503470, essv6225405, essv6237933, essv6528535, essv6150134, essv5933219, essv5569372, essv5933634, essv6332134, essv6115664, essv6210120, essv5664196, essv6048402, essv6369601, essv5710180, essv6040621, essv6024342, essv6328491, essv5519845, essv5514669, essv5750094, essv6475292, essv5584954, essv5467352, essv5963708, essv5549160, essv6234562, essv6160770, essv6399651, essv5669774, essv5433822, essv5912503, essv6348046, essv5640089
SamplesNA20588, NA20761, NA20529, NA20783, NA20514, NA20813, NA20752, NA20512, NA20805, NA20808, NA20517, NA20507, NA20806, NA20537, NA20518, NA20775, NA20811, NA20757, NA20818, NA20809, NA20810, NA20770, NA20581, NA20828, NA20542, NA20773, NA20801, NA20790, NA20504, NA20582, NA20510, NA20826, NA20528, NA20503
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2674323
Frequency
Sample Size1151
Observed Gain0
Observed Loss34
Observed Complex0
Frequencyn/a


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