A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2661820



Internal ID9927925
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:129037306..129038801hg38UCSC Ensembl
Outerchr11:129037269..129038851hg38UCSC Ensembl
Innerchr11:128907201..128908696hg19UCSC Ensembl
Outerchr11:128907164..128908746hg19UCSC Ensembl
Cytoband11q24.3
Allele length
AssemblyAllele length
hg381583
hg191583
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6541800, essv6395465, essv6425495, essv6463669
SamplesNA19107, HG00641, NA19916, NA19235
Known GenesARHGAP32
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2661820
Frequency
Sample Size1151
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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