A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2661287



Internal ID9927392
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr9:116254742..116258490hg38UCSC Ensembl
Outerchr9:116254585..116258643hg38UCSC Ensembl
Innerchr9:119017021..119020769hg19UCSC Ensembl
Outerchr9:119016864..119020922hg19UCSC Ensembl
Cytoband9q33.1
Allele length
AssemblyAllele length
hg384059
hg194059
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5633967, essv5765323, essv5751894, essv5582219, essv6516691, essv5589599, essv6252061, essv5637813, essv5411335, essv6389286, essv5604936, essv6379008, essv5538099, essv5419287, essv6413651, essv6119559, essv6453814, essv5465402, essv5792865, essv5693864, essv6379395, essv6242226, essv6153115, essv5419663
SamplesHG00524, NA18565, NA18599, NA18988, HG00271, HG00702, HG00689, NA19062, NA18611, NA18614, NA18544, NA19064, NA18626, HG00404, HG00613, NA19059, HG00625, HG00366, HG00607, HG00656, NA20826, NA18989, NA19063, NA19065
Known GenesPAPPA
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2661287
Frequency
Sample Size1151
Observed Gain0
Observed Loss24
Observed Complex0
Frequencyn/a


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