A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2722047



Internal ID10305683
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr20:1019615..1020089hg38UCSC Ensembl
Outerchr20:1000258..1000732hg19UCSC Ensembl
Cytoband20p13
Allele length
AssemblyAllele length
hg38475
hg19475
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv646e201
Supporting Variantsessv6747434, essv6666172, essv6901261
SamplesSSM100, SSM029, SSM055
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)esv2722047
Frequency
Sample Size96
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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