A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6970762



Internal ID9644733
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:133140813..133140974hg38UCSC Ensembl
Outerchr11:133010708..133010869hg19UCSC Ensembl
Cytoband11q25
Allele length
AssemblyAllele length
hg38162
hg19162
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2745293, esv2745292
Supporting Variants
SamplesSSM004
Known GenesOPCML
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)essv6970762
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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