A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2744996



Internal ID10325966
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:102730615..102731522hg38UCSC Ensembl
Outerchr11:102601346..102602253hg19UCSC Ensembl
Cytoband11q22.2
Allele length
AssemblyAllele length
hg38908
hg19908
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv146e201
Supporting Variantsessv6716714, essv6673035, essv6732048, essv6724424, essv6775628, essv6953143, essv6927855, essv6712915, essv6970720, essv6688218, essv6695464
SamplesSSM045, SSM042, SSM028, SSM047, SSM019, SSM035, SSM031, SSM066, SSM037, SSM025, SSM043
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)esv2744996
Frequency
Sample Size96
Observed Gain0
Observed Loss11
Observed Complex0
Frequencyn/a


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