A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6912471



Internal ID9675239
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:58864320..58869066hg38UCSC Ensembl
Outerchr11:58631793..58636539hg19UCSC Ensembl
Cytoband11q12.1
Allele length
AssemblyAllele length
hg384747
hg194747
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2744558, esv2744557
Supporting Variants
SamplesSSM015
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)essv6912471
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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