A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2751105



Internal ID12637971
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:52285116..52398116hg38UCSC Ensembl
Innerchr12:52678900..52791900hg19UCSC Ensembl
Innerchr12:50965167..51078167hg18UCSC Ensembl
Innerchr12:50965167..51078167hg17UCSC Ensembl
Cytoband12q13.13
Allele length
AssemblyAllele length
hg38113001
hg19113001
hg18113001
hg17113001
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv70e55
Supporting Variantsessv6981171, essv6985503, essv6981169, essv6981170, essv6985504
SamplesBEC_361
Known GenesKRT81, KRT82, KRT83, KRT84, KRT85, KRT86
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Affymetrix Mapping 250K Sty2 SNP Array
CommentsSample level SV from stringent call set
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)esv2751105
Frequency
Sample Size771
Observed Gain5
Observed Loss0
Observed Complex0
Frequencyn/a


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