A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6979959



Internal ID12634327
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:33450554..33990055hg38UCSC Ensembl
Innerchr19:33941460..34480960hg19UCSC Ensembl
Innerchr19:38633300..39172800hg18UCSC Ensembl
Innerchr19:38633300..39172800hg17UCSC Ensembl
Cytoband19q13.11
Allele length
AssemblyAllele length
hg38539502
hg19539501
hg18539501
hg17539501
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv34628
Supporting Variants
SamplesNA18863
Known GenesCHST8, KCTD15, PEPD
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6979959
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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