A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2744350



Internal ID9978634
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:36756282..36756998hg38UCSC Ensembl
Outerchr11:36777832..36778548hg19UCSC Ensembl
Cytoband11p12
Allele length
AssemblyAllele length
hg38717
hg19717
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6737187, essv6710121, essv6740933, essv6698649, essv6976889, essv6969951
SamplesSSM038, SSM029, SSM006, SSM007, SSM004, SSM052
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)esv2744350
Frequency
Sample Size96
Observed Gain0
Observed Loss6
Observed Complex0
Frequencyn/a


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