A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2722515



Internal ID10306151
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr20:51890668..51891129hg38UCSC Ensembl
Outerchr20:50507207..50507668hg19UCSC Ensembl
Cytoband20q13.2
Allele length
AssemblyAllele length
hg38462
hg19462
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6916988, essv6950055, essv6721600, essv6946025, essv6696560, essv6713827, essv6674628, essv6863469, essv6780395, essv6871388, essv6710267, essv6852660, essv6873664, essv6960827, essv6880135, essv6882971, essv6682442, essv6921190, essv6784551, essv6925231, essv6960826, essv6937173, essv6810063
SamplesSSM024, SSM075, SSM011, SSM093, SSM042, SSM088, SSM041, SSM023, SSM090, SSM021, SSM018, SSM026, SSM017, SSM094, SSM031, SSM067, SSM044, SSM086, SSM033, SSM068, SSM016, SSM037
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)esv2722515
Frequency
Sample Size96
Observed Gain0
Observed Loss22
Observed Complex0
Frequencyn/a


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