A curated catalogue of human genomic structural variation




Variant Details

Variant: essv2585356



Internal ID249
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:243697610..243697747hg38UCSC Ensembl
Outerchr1:243690882..243699794hg38UCSC Ensembl
Innerchr1:243860912..243861049hg19UCSC Ensembl
Outerchr1:243854184..243863096hg19UCSC Ensembl
Innerchr1:241927535..241927672hg18UCSC Ensembl
Outerchr1:241920807..241929719hg18UCSC Ensembl
Cytoband1q44
Allele length
AssemblyAllele length
hg388913
hg198913
hg188913
Variant TypeCNV loss
Copy Number
Allele State
Allele OriginNot tested
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv275568
Supporting Variants
Samples
Known GenesAKT3
MethodSNP array
AnalysisIdentification of germline Changes in Copy Number (IgC2N)
PlatformAffymetrix SNP 6.0
Comments
ReferenceBanerjee_et_al_2011
Pubmed ID21479260
Accession Number(s)essv2585356
Frequency
Sample Size1250
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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