A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2657759



Internal ID4702093
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr9:2149040..2152029hg19UCSC Ensembl
Outerchr9:2149001..2152079hg19UCSC Ensembl
Cytoband9p24.3
Allele length
AssemblyAllele length
hg19n/a
Variant TypeCNV Deletion
Copy Number
Allele State
Allele Origin
Probe Count
Merged StatusM
Merged Variants
Supporting Variantsessv6454626, essv6124887
SamplesNA19712, NA19403
Known GenesSMARCA2
Method
Analysis
Platform
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2657759
Frequency
Sample Size1151
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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