A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6979125



Internal ID12632982
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:19526517..20586066hg38UCSC Ensembl
Innerchr3:19568009..20627558hg19UCSC Ensembl
Innerchr3:19543013..20602562hg18UCSC Ensembl
Innerchr3:19543013..20602562hg17UCSC Ensembl
Cytoband3p24.3
Allele length
AssemblyAllele length
hg381059550
hg191059550
hg181059550
hg171059550
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 Nsp SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6979125
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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