A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6987476



Internal ID12630860
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:52297319..52383252hg38UCSC Ensembl
Innerchr12:52691103..52777036hg19UCSC Ensembl
Innerchr12:50977370..51063303hg18UCSC Ensembl
Innerchr12:50977370..51063303hg17UCSC Ensembl
Cytoband12q13.13
Allele length
AssemblyAllele length
hg3885934
hg1985934
hg1885934
hg1785934
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 Nsp SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6987476
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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