A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2719646



Internal ID10303282
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:10312179..10312460hg38UCSC Ensembl
Outerchr2:10452305..10452586hg19UCSC Ensembl
Cytoband2p25.1
Allele length
AssemblyAllele length
hg38282
hg19282
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6955204, essv6825273, essv6961982, essv6699905, essv6675467, essv6729890, essv6722268, essv6722269, essv6801823, essv6821449, essv6785290, essv6919096, essv6718428, essv6693080
SamplesSSM027, SSM045, SSM079, SSM039, SSM073, SSM047, SSM069, SSM026, SSM032, SSM003, SSM044, SSM080, SSM037
Known GenesHPCAL1
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)esv2719646
Frequency
Sample Size96
Observed Gain0
Observed Loss13
Observed Complex0
Frequencyn/a


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