A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6981171



Internal ID12626253
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:52307183..52398116hg38UCSC Ensembl
Innerchr12:52700967..52791900hg19UCSC Ensembl
Innerchr12:50987234..51078167hg18UCSC Ensembl
Innerchr12:50987234..51078167hg17UCSC Ensembl
Cytoband12q13.13
Allele length
AssemblyAllele length
hg3890934
hg1990934
hg1890934
hg1790934
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2751105
Supporting Variants
SamplesBEC_361
Known GenesKRT82, KRT83, KRT84, KRT85, KRT86
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Sty2 SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6981171
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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