A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2720731



Internal ID10304367
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:127979065..127979868hg38UCSC Ensembl
Outerchr2:128736639..128737442hg19UCSC Ensembl
Cytoband2q14.3
Allele length
AssemblyAllele length
hg38804
hg19804
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6933721, essv6769911, essv6752020, essv6898905, essv6748072, essv6742438, essv6759343, essv6756805, essv6929495, essv6753803, essv6764419, essv6920073, essv6853807, essv6817019, essv6739151, essv6926021, essv6953317, essv6962154, essv6973038, essv6864422, essv6832938, essv6847618, essv6844200, essv6892658, essv6667091, essv6733744, essv6917834, essv6859630, essv6819487, essv6880065
SamplesSSM100, SSM059, SSM008, SSM027, SSM065, SSM087, SSM088, SSM058, SSM021, SSM061, SSM029, SSM089, SSM017, SSM019, SSM003, SSM086, SSM085, SSM082, SSM020, SSM078, SSM053, SSM010, SSM004, SSM052, SSM098, SSM049, SSM056, SSM030, SSM063, SSM012
Known GenesSAP130
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)esv2720731
Frequency
Sample Size96
Observed Gain0
Observed Loss30
Observed Complex0
Frequencyn/a


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