A curated catalogue of human genomic structural variation




Variant Details

Variant: esv275479



Internal ID1699
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:56084560..56084613hg38UCSC Ensembl
Outerchr12:56084540..56087279hg38UCSC Ensembl
Innerchr12:56478344..56478397hg19UCSC Ensembl
Outerchr12:56478324..56481063hg19UCSC Ensembl
Innerchr12:54764611..54764664hg18UCSC Ensembl
Outerchr12:54764591..54767330hg18UCSC Ensembl
Cytoband12q13.2
Allele length
AssemblyAllele length
hg382740
hg192740
hg182740
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv2585961, essv2585244
Samples
Known GenesERBB3
MethodSNP array
AnalysisIdentification of germline Changes in Copy Number (IgC2N)
PlatformAffymetrix SNP 6.0
Comments
ReferenceBanerjee_et_al_2011
Pubmed ID21479260
Accession Number(s)esv275479
Frequency
Sample Size1250
Observed Gain1
Observed Loss1
Observed Complex0
Frequencyn/a


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