A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2722479



Internal ID9956779
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr20:48431368..48431780hg38UCSC Ensembl
Outerchr20:47060110..47060522hg19UCSC Ensembl
Cytoband20q13.13
Allele length
AssemblyAllele length
hg38413
hg19413
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6835753, essv6780393, essv6971802, essv6784545, essv6721596, essv6810061, essv6885678, essv6960823, essv6792829, essv6696555, essv6954232, essv6801206, essv6733056, essv6898284, essv6717726, essv6932856, essv6804160, essv6696553, essv6706940, essv6909716, essv6747470, essv6813377, essv6863467, essv6729202
SamplesSSM075, SSM046, SSM009, SSM073, SSM088, SSM028, SSM047, SSM026, SSM067, SSM044, SSM014, SSM068, SSM040, SSM072, SSM082, SSM020, SSM037, SSM055, SSM070, SSM095, SSM025, SSM099, SSM043
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)esv2722479
Frequency
Sample Size96
Observed Gain0
Observed Loss23
Observed Complex0
Frequencyn/a


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