A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2720493



Internal ID9954789
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:107309831..107310259hg38UCSC Ensembl
Outerchr2:107926287..107926715hg19UCSC Ensembl
Cytoband2q12.3
Allele length
AssemblyAllele length
hg38429
hg19429
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6683130, essv6902860, essv6797833, essv6919818, essv6953117, essv6914280, essv6801886, essv6868992, essv6766801, essv6864394, essv6753778, essv6714596, essv6840328, essv6819353, essv6859595, essv6942209
SamplesSSM064, SSM013, SSM073, SSM088, SSM023, SSM058, SSM084, SSM090, SSM089, SSM003, SSM072, SSM016, SSM010, SSM034, SSM004, 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)esv2720493
Frequency
Sample Size96
Observed Gain0
Observed Loss16
Observed Complex0
Frequencyn/a


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