A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6990428



Internal ID12634332
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:33409003..34004577hg38UCSC Ensembl
Innerchr19:33899909..34495482hg19UCSC Ensembl
Innerchr19:38591749..39187322hg18UCSC Ensembl
Innerchr19:38591749..39187322hg17UCSC Ensembl
Cytoband19q13.11
Allele length
AssemblyAllele length
hg38595575
hg19595574
hg18595574
hg17595574
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)essv6990428
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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