A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6834838



Internal ID9887963
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:133231937..133232148hg38UCSC Ensembl
Outerchr11:133101832..133102043hg19UCSC Ensembl
Cytoband11q25
Allele length
AssemblyAllele length
hg38212
hg19212
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2745295, esv2745296, esv2745301, esv2745299
Supporting Variants
SamplesSSM082
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)essv6834838
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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