A curated catalogue of human genomic structural variation




Variant Details

Variant: essv2585839



Internal ID732
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:119005682..119005682hg38UCSC Ensembl
Outerchr12:119003833..119005908hg38UCSC Ensembl
Innerchr12:119443487..119443487hg19UCSC Ensembl
Outerchr12:119441638..119443713hg19UCSC Ensembl
Innerchr12:117927870..117927870hg18UCSC Ensembl
Outerchr12:117926021..117928096hg18UCSC Ensembl
Cytoband12q24.23
Allele length
AssemblyAllele length
hg382076
hg192076
hg182076
Variant TypeCNV gain
Copy Number
Allele State
Allele OriginNot tested
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv275551
Supporting Variants
Samples
Known GenesSRRM4
MethodSNP array
AnalysisIdentification of germline Changes in Copy Number (IgC2N)
PlatformAffymetrix SNP 6.0
Comments
ReferenceBanerjee_et_al_2011
Pubmed ID21479260
Accession Number(s)essv2585839
Frequency
Sample Size1250
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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