A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2751106



Internal ID1703234
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:52828439..52864240hg19UCSC Ensembl
Innerchr12:51114706..51150507hg18UCSC Ensembl
Innerchr12:51114706..51150507hg17UCSC Ensembl
Cytoband12q13.13
Allele length
AssemblyAllele length
hg19n/a
hg18n/a
hg17n/a
Variant TypeCNV Loss
Copy Number
Allele State
Allele Origin
Probe Count
Merged StatusM
Merged Variants
Supporting Variantsessv6984130, essv6989413
SamplesBEC_783
Known GenesKRT6B, KRT6C
Method
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array + Affymetrix Mapping 250K Sty2 SNP Array
CommentsSample level SV from stringent call set (Pinto2007.txt)
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)esv2751106
Frequency
Sample Size771
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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