A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6986980



Internal ID12634342
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:33415858..33977055hg38UCSC Ensembl
Innerchr19:33906764..34467960hg19UCSC Ensembl
Innerchr19:38598604..39159800hg18UCSC Ensembl
Innerchr19:38598604..39159800hg17UCSC Ensembl
Cytoband19q13.11
Allele length
AssemblyAllele length
hg38561198
hg19561197
hg18561197
hg17561197
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 Sty2 SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6986980
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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