A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2722593



Internal ID10306229
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr20:57110157..57110903hg38UCSC Ensembl
Outerchr20:55685213..55685959hg19UCSC Ensembl
Cytoband20q13.31
Allele length
AssemblyAllele length
hg38747
hg19747
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6674637, essv6852669, essv6745365, essv6960842, essv6820750, essv6874341, essv6750317, essv6863477, essv6666274, essv6868277, essv6868275, essv6744640, essv6901307, essv6971809, essv6780388
SamplesSSM100, SSM008, SSM088, SSM028, SSM029, SSM026, SSM089, SSM031, SSM086, SSM007, SSM078, SSM053, SSM091, 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)esv2722593
Frequency
Sample Size96
Observed Gain0
Observed Loss14
Observed Complex0
Frequencyn/a


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