A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2725267



Internal ID10308903
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:51861020..51861551hg38UCSC Ensembl
Outerchr3:51895036..51895567hg19UCSC Ensembl
Cytoband3p21.2
Allele length
AssemblyAllele length
hg38532
hg19532
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6686596, essv6903039, essv6917999, essv6929667, essv6968555, essv6693394, essv6722536, essv6711135, essv6922322, essv6938228, essv6669868, essv6789729, essv6955718, essv6714788, essv6933892
SamplesSSM045, SSM013, SSM042, SSM028, SSM021, SSM018, SSM026, SSM017, SSM035, SSM031, SSM020, SSM037, SSM022, SSM070, 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)esv2725267
Frequency
Sample Size96
Observed Gain0
Observed Loss15
Observed Complex0
Frequencyn/a


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