A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2745302



Internal ID9979586
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:133253673..133254040hg38UCSC Ensembl
Outerchr11:133123568..133123935hg19UCSC Ensembl
Cytoband11q25
Allele length
AssemblyAllele length
hg38368
hg19368
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6775648, essv6695491, essv6924280, essv6673081, essv6677762, essv6959180, essv6716737, essv6712937
SamplesSSM042, SSM043, SSM031, SSM032, SSM066, SSM037, SSM026, SSM018
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)esv2745302
Frequency
Sample Size96
Observed Gain0
Observed Loss8
Observed Complex0
Frequencyn/a


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