A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6990283



Internal ID12632413
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:52307149..52382149hg38UCSC Ensembl
Innerchr12:52700933..52775933hg19UCSC Ensembl
Innerchr12:50987200..51062200hg18UCSC Ensembl
Innerchr12:50987200..51062200hg17UCSC Ensembl
Cytoband12q13.13
Allele length
AssemblyAllele length
hg3875001
hg1975001
hg1875001
hg1775001
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv35152
Supporting Variants
SamplesNA12239
Known GenesKRT83, KRT84, KRT85, KRT86
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Sty2 SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6990283
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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