A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2719942



Internal ID10303578
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:38088444..38089116hg38UCSC Ensembl
Outerchr2:38315586..38316258hg19UCSC Ensembl
Cytoband2p22.2
Allele length
AssemblyAllele length
hg38673
hg19673
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6929402, essv6751198, essv6781198, essv6952662, essv6879342, essv6789485, essv6693111, essv6769839, essv6804641, essv6942141, essv6919351, essv6910359, essv6675493, essv6777229, essv6917743, essv6972885, essv6710873, essv6726137, essv6699939, essv6871941, essv6840270, essv6829273, essv6704119, essv6722289, essv6968282, essv6689539, essv6922045, essv6773730, essv6937988, essv6955256, essv6825303, essv6821471, essv6962020, essv6669445, essv6797775
SamplesSSM036, SSM008, SSM027, SSM045, SSM046, SSM079, SSM065, SSM039, SSM074, SSM042, SSM023, SSM028, SSM084, SSM018, SSM029, SSM026, SSM017, SSM032, SSM003, SSM031, SSM067, SSM066, SSM068, SSM081, SSM040, SSM072, SSM020, SSM015, SSM080, SSM037, SSM022, SSM091, SSM070, SSM004, SSM012
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)esv2719942
Frequency
Sample Size96
Observed Gain0
Observed Loss35
Observed Complex0
Frequencyn/a


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