A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2671953



Internal ID9938058
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr9:129563445..129565524hg38UCSC Ensembl
Outerchr9:129563288..129565677hg38UCSC Ensembl
Innerchr9:132325724..132327803hg19UCSC Ensembl
Outerchr9:132325567..132327956hg19UCSC Ensembl
Cytoband9q34.11
Allele length
AssemblyAllele length
hg382390
hg192390
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5724025, essv5608983, essv6230253, essv6123317, essv6043361, essv5850763, essv6104807, essv5832580, essv6075050, essv5567648, essv6306528, essv6545108
SamplesNA18596, NA18616, HG00589, NA18635, NA18557, HG00464, NA19007, HG00583, NA19081, NA18615, HG00620, NA19060
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2671953
Frequency
Sample Size1151
Observed Gain0
Observed Loss12
Observed Complex0
Frequencyn/a


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