A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2744678



Internal ID10325648
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:69088880..69093193hg38UCSC Ensembl
Outerchr11:68856348..68860661hg19UCSC Ensembl
Cytoband11q13.3
Allele length
AssemblyAllele length
hg384314
hg194314
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6804776, essv6702330
SamplesSSM039, SSM009
Known GenesTPCN2
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)esv2744678
Frequency
Sample Size96
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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