A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2719837



Internal ID10303473
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:28130930..28131379hg38UCSC Ensembl
Outerchr2:28353797..28354246hg19UCSC Ensembl
Cytoband2p23.2
Allele length
AssemblyAllele length
hg38450
hg19450
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6689526, essv6868939, essv6756742, essv6733683, essv6742367, essv6736196, essv6968267, essv6751065, essv6919240, essv6714538, essv6946780, essv6929390, essv6773717, essv6955237, essv6759278, essv6753727, essv6726125, essv6777218, essv6836471, essv6896044, essv6883458, essv6937976, essv6807588, essv6785312, essv6871928, essv6942126, essv6972863, essv6722280, essv6704105, essv6962003, essv6781187, essv6853659, essv6762011, essv6793603, essv6922030, essv6729904, essv6667042
SamplesSSM059, SSM036, SSM008, SSM083, SSM071, SSM027, SSM024, SSM075, SSM045, SSM046, SSM087, SSM050, SSM023, SSM058, SSM028, SSM090, SSM047, SSM018, SSM069, SSM061, SSM029, SSM062, SSM026, SSM003, SSM067, SSM066, SSM068, SSM040, SSM020, SSM053, SSM022, SSM091, SSM095, SSM099, SSM043, SSM049, SSM030
Known GenesBRE
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)esv2719837
Frequency
Sample Size96
Observed Gain0
Observed Loss37
Observed Complex0
Frequencyn/a


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