A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2722654



Internal ID10306290
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr20:60500567..60500943hg38UCSC Ensembl
Outerchr20:59075625..59076001hg19UCSC Ensembl
Cytoband20q13.33
Allele length
AssemblyAllele length
hg38377
hg19377
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6941336, essv6766285, essv6868283
SamplesSSM089, SSM022, SSM063
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)esv2722654
Frequency
Sample Size96
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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