A curated catalogue of human genomic structural variation




Variant Details

Variant: essv2585940



Internal ID347519
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr20:57053498..57061410hg38UCSC Ensembl
Outerchr20:57052146..57061570hg38UCSC Ensembl
Innerchr20:55628554..55636466hg19UCSC Ensembl
Outerchr20:55627202..55636626hg19UCSC Ensembl
Innerchr20:55061961..55069873hg18UCSC Ensembl
Outerchr20:55060609..55070033hg18UCSC Ensembl
Cytoband20q13.31
Allele length
AssemblyAllele length
hg389425
hg199425
hg189425
Variant TypeCNV loss
Copy Number
Allele State
Allele OriginNot tested
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv275083
Supporting Variants
Samples
Known Genes
MethodSNP array
AnalysisIdentification of germline Changes in Copy Number (IgC2N)
PlatformAffymetrix SNP 6.0
Comments
ReferenceBanerjee_et_al_2011
Pubmed ID21479260
Accession Number(s)essv2585940
Frequency
Sample Size1250
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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