A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2719819



Internal ID9954113
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:24345563..24345825hg38UCSC Ensembl
Outerchr2:24568432..24568694hg19UCSC Ensembl
Cytoband2p23.3
Allele length
AssemblyAllele length
hg38263
hg19263
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6816912, essv6898828, essv6683068, essv6906376, essv6942122, essv6704103, essv6785306, essv6679463
SamplesSSM033, SSM040, SSM078, SSM100, SSM069, SSM034, SSM023, SSM014
Known GenesITSN2
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)esv2719819
Frequency
Sample Size96
Observed Gain0
Observed Loss8
Observed Complex0
Frequencyn/a


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