A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2720880



Internal ID10304516
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:138968839..139489987hg38UCSC Ensembl
Outerchr2:139726409..140247557hg19UCSC Ensembl
Cytoband2q22.1
Allele length
AssemblyAllele length
hg38521149
hg19521149
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6730001, essv6953450, essv6745233, essv6759350, essv6973069, essv6853833, essv6739162, essv6739161, essv6675585, essv6707618, essv6742450, essv6750904, essv6938088, essv6847640, essv6683168, essv6756818, essv6733753, essv6914323, essv6813507, essv6736282, essv6889348, essv6840372, essv6689637, essv6973070, essv6679560, essv6817044, essv6808597, essv6748085, essv6789588, essv6968384, essv6847641, essv6721832, essv6926032, essv6844214, essv6736280, essv6752131, essv6736281, essv6853834, essv6950961, essv6832957, essv6942252, essv6698209, essv6859651, essv6962181, essv6769926, essv6762079, essv6698220
SamplesSSM059, SSM036, SSM008, SSM027, SSM065, SSM087, SSM097, SSM050, SSM088, SSM041, SSM057, SSM023, SSM028, SSM084, SSM047, SSM061, SSM029, SSM062, SSM019, SSM032, SSM001, SSM086, SSM033, SSM006, SSM085, SSM082, SSM007, SSM078, SSM016, SSM053, SSM077, SSM022, SSM055, SSM070, SSM025, SSM034, SSM004, SSM052, SSM049, SSM056
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)esv2720880
Frequency
Sample Size96
Observed Gain0
Observed Loss40
Observed Complex0
Frequencyn/a


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