A curated catalogue of human genomic structural variation




Variant Details

Variant: esv275551



Internal ID1771
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+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv2585839, essv2585479
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)esv275551
Frequency
Sample Size1250
Observed Gain1
Observed Loss1
Observed Complex0
Frequencyn/a


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