A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2722418



Internal ID9956717
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr20:41277643..41278878hg38UCSC Ensembl
Outerchr20:39906283..39907518hg19UCSC Ensembl
Cytoband20q12
Allele length
AssemblyAllele length
hg381236
hg191236
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6913548, essv6863465, essv6804157, essv6745277, essv6733052, essv6744631, essv6941322, essv6813343, essv6735757, essv6858589, essv6967276, essv6766272, essv6776567, essv6713823, essv6797002, essv6954226, essv6750305, essv6792827, essv6895458, essv6721592, essv6692367, essv6788715, essv6852650, essv6738518, essv6716309, essv6925224, essv6761584, essv6898280, essv6729196, essv6688992, essv6888692, essv6916981, essv6773002, essv6928703, essv6678747, essv6820734, essv6693266, essv6703427, essv6674619, essv6812863, essv6774486, essv6706938, essv6758808, essv6835750, essv6756225
SamplesSSM065, SSM022, SSM007, SSM027, SSM053, SSM082, SSM086, SSM006, SSM036, SSM061, SSM099, SSM042, SSM040, SSM078, SSM088, SSM031, SSM035, SSM025, SSM071, SSM016, SSM001, SSM032, SSM039, SSM050, SSM005, SSM056, SSM009, SSM066, SSM047, SSM073, SSM069, SSM063, SSM087, SSM046, SSM019, SSM096, SSM044, SSM015, SSM049, SSM098, SSM018, SSM076, SSM058, SSM059, SSM070
Known GenesZHX3
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)esv2722418
Frequency
Sample Size96
Observed Gain0
Observed Loss45
Observed Complex0
Frequencyn/a


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