A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6851082



Internal ID10249455
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:127874840..127874944hg38UCSC Ensembl
Outerchr11:127744735..127744839hg19UCSC Ensembl
Cytoband11q24.2
Allele length
AssemblyAllele length
hg38105
hg19105
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2745225, esv2745226
Supporting Variants
SamplesSSM086
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)essv6851082
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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