A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6984017



Internal ID12630854
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:52307183..52382151hg38UCSC Ensembl
Innerchr12:52700967..52775935hg19UCSC Ensembl
Innerchr12:50987234..51062202hg18UCSC Ensembl
Innerchr12:50987234..51062202hg17UCSC Ensembl
Cytoband12q13.13
Allele length
AssemblyAllele length
hg3874969
hg1974969
hg1874969
hg1774969
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2751104
Supporting Variants
SamplesBEC_745
Known GenesKRT83, KRT84, KRT85, KRT86
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Sty2 SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6984017
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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