A curated catalogue of human genomic structural variation




Variant Details

Variant: esv35152



Internal ID12644502
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:52282619..52391735hg38UCSC Ensembl
Innerchr12:52676403..52785519hg19UCSC Ensembl
Innerchr12:50962670..51071786hg18UCSC Ensembl
Innerchr12:50962670..51071786hg17UCSC Ensembl
Cytoband12q13.13
Allele length
AssemblyAllele length
hg38109117
hg19109117
hg18109117
hg17109117
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv70e55
Supporting Variantsessv6990283, essv6978771, essv6978770, essv6978769, essv6986702
SamplesNA12239
Known GenesKRT81, 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)esv35152
Frequency
Sample Size771
Observed Gain5
Observed Loss0
Observed Complex0
Frequencyn/a


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