A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2743900



Internal ID9978184
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:1148097..1148594hg38UCSC Ensembl
Outerchr11:1142005..1142502hg19UCSC Ensembl
Cytoband11p15.5
Allele length
AssemblyAllele length
hg38498
hg19498
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6834711, essv6823433, essv6731923, essv6681404, essv6771878, essv6904728, essv6965464, essv6919966, essv6856894, essv6768349, essv6724306, essv6770076, essv6775539, essv6791659, essv6937351, essv6897532, essv6924139, essv6940120, essv6783366, essv6827500
SamplesSSM008, SSM027, SSM045, SSM064, SSM079, SSM065, SSM087, SSM013, SSM047, SSM018, SSM017, SSM003, SSM033, SSM066, SSM068, SSM082, SSM080, SSM022, SSM070, SSM012
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)esv2743900
Frequency
Sample Size96
Observed Gain0
Observed Loss20
Observed Complex0
Frequencyn/a


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