A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2722567



Internal ID10306203
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr20:55859547..55865575hg38UCSC Ensembl
Outerchr20:54434603..54440631hg19UCSC Ensembl
Cytoband20q13.2
Allele length
AssemblyAllele length
hg386029
hg196029
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6960834, essv6745332, essv6733064, essv6776581, essv6692370, essv6738528, essv6758817, essv6741816, essv6871390, essv6824546, essv6775486, essv6868271, essv6846631, essv6744637, essv6839537, essv6807057, essv6769194, essv6696568, essv6902143, essv6892008, essv6885683, essv6828613, essv6816226, essv6682445, essv6882973, essv6812869, essv6873686, essv6716388, essv6721604, essv6729204, essv6832179, essv6780365, essv6665877, essv6766279, essv6946026, essv6950058, essv6666267, essv6925233, essv6913561, essv6901305, essv6880138, essv6773013, essv6678753, essv6909722, essv6852666, essv6921192, essv6801208
SamplesSSM100, SSM059, SSM036, SSM008, SSM083, SSM024, SSM046, SSM011, SSM064, SSM079, SSM065, SSM097, SSM093, SSM050, SSM074, SSM023, SSM090, SSM047, SSM018, SSM029, SSM026, SSM089, SSM017, SSM094, SSM032, SSM044, SSM001, SSM014, SSM086, SSM033, SSM066, SSM006, SSM085, SSM081, SSM072, SSM007, SSM015, SSM053, SSM080, SSM037, SSM077, SSM076, SSM095, SSM004, SSM052, SSM063, 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)esv2722567
Frequency
Sample Size96
Observed Gain0
Observed Loss47
Observed Complex0
Frequencyn/a


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