A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2672241



Internal ID2905328
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr9:2191936..2197746hg38UCSC Ensembl
Outerchr9:2191779..2197899hg38UCSC Ensembl
Innerchr9:2191936..2197746hg19UCSC Ensembl
Outerchr9:2191779..2197899hg19UCSC Ensembl
Cytoband9p24.3
Allele length
AssemblyAllele length
hg386121
hg196121
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5801910, essv6146434
SamplesHG00656, HG00702
Known GenesSMARCA2
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2672241
Frequency
Sample Size1151
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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