A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6979124



Internal ID12632981
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:19513779..20728244hg38UCSC Ensembl
Innerchr3:19555271..20769736hg19UCSC Ensembl
Innerchr3:19530275..20744740hg18UCSC Ensembl
Innerchr3:19530275..20744740hg17UCSC Ensembl
Cytoband3p24.3
Allele length
AssemblyAllele length
hg381214466
hg191214466
hg181214466
hg171214466
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv35078
Supporting Variants
SamplesNA15510
Known GenesEFHB, KAT2B, KCNH8, PP2D1, RAB5A, SGOL1, SGOL1-AS1
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Sty2 SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6979124
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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