A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6979942



Internal ID12634310
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:33446371..34023008hg38UCSC Ensembl
Innerchr19:33937277..34513913hg19UCSC Ensembl
Innerchr19:38629117..39205753hg18UCSC Ensembl
Innerchr19:38629117..39205753hg17UCSC Ensembl
Cytoband19q13.11
Allele length
AssemblyAllele length
hg38576638
hg19576637
hg18576637
hg17576637
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv34290
Supporting Variants
SamplesNA18862
Known GenesCHST8, KCTD15, PEPD
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Sty2 SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6979942
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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