A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2744598



Internal ID10325568
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:62122535..62123178hg38UCSC Ensembl
Outerchr11:61890007..61890650hg19UCSC Ensembl
Cytoband11q12.3
Allele length
AssemblyAllele length
hg38644
hg19644
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6755448, essv6976945, essv6668144
SamplesSSM058, SSM029, SSM030
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)esv2744598
Frequency
Sample Size96
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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