A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2744496



Internal ID9978780
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:48925336..48925525hg38UCSC Ensembl
Outerchr11:48946888..48947077hg19UCSC Ensembl
Cytoband11p11.12
Allele length
AssemblyAllele length
hg38190
hg19190
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6768400
SamplesSSM064
Known Genes
MethodSequencing
AnalysisBreakdancer:4 times standard deviation,VariationHunter:4 times standard deviation and at least 3 supportting reads
PlatformIllumina HiSeq 2000
Comments
ReferenceWong_et_al_2012b
Pubmed ID23290073
Accession Number(s)esv2744496
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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