A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6986975



Internal ID12634302
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:33446354..34023055hg38UCSC Ensembl
Innerchr19:33937260..34513960hg19UCSC Ensembl
Innerchr19:38629100..39205800hg18UCSC Ensembl
Innerchr19:38629100..39205800hg17UCSC Ensembl
Cytoband19q13.11
Allele length
AssemblyAllele length
hg38576702
hg19576701
hg18576701
hg17576701
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)essv6986975
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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