A curated catalogue of human genomic structural variation




Variant Details

Variant: esv275582



Internal ID1802
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:70390846..70390913hg38UCSC Ensembl
Outerchr12:70390135..70391266hg38UCSC Ensembl
Innerchr12:70784626..70784693hg19UCSC Ensembl
Outerchr12:70783915..70785046hg19UCSC Ensembl
Innerchr12:69070893..69070960hg18UCSC Ensembl
Outerchr12:69070182..69071313hg18UCSC Ensembl
Cytoband12q15
Allele length
AssemblyAllele length
hg381132
hg191132
hg181132
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv2586096
Samples
Known GenesKCNMB4
MethodSNP array
AnalysisIdentification of germline Changes in Copy Number (IgC2N)
PlatformAffymetrix SNP 6.0
Comments
ReferenceBanerjee_et_al_2011
Pubmed ID21479260
Accession Number(s)esv275582
Frequency
Sample Size1250
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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