A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2744650



Internal ID9978934
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:67670014..67670397hg38UCSC Ensembl
Outerchr11:67437485..67437868hg19UCSC Ensembl
Cytoband11q13.2
Allele length
AssemblyAllele length
hg38384
hg19384
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv142e201
Supporting Variantsessv6948968, essv6887922, essv6791749, essv6724396
SamplesSSM024, SSM045, SSM096, SSM070
Known GenesALDH3B2
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)esv2744650
Frequency
Sample Size96
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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