A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2744647



Internal ID9978931
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:67669934..67670390hg38UCSC Ensembl
Outerchr11:67437405..67437861hg19UCSC Ensembl
Cytoband11q13.2
Allele length
AssemblyAllele length
hg38457
hg19457
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv142e201
Supporting Variantsessv6720580, essv6959090, essv6887922, essv6706110, essv6965610, essv6791749, essv6724396, essv6758150, essv6976950
SamplesSSM059, SSM027, SSM045, SSM029, SSM096, SSM026, SSM044, SSM040, 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)esv2744647
Frequency
Sample Size96
Observed Gain0
Observed Loss9
Observed Complex0
Frequencyn/a


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