A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6979944



Internal ID12634308
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:33450598..33990006hg38UCSC Ensembl
Innerchr19:33941504..34480911hg19UCSC Ensembl
Innerchr19:38633344..39172751hg18UCSC Ensembl
Innerchr19:38633344..39172751hg17UCSC Ensembl
Cytoband19q13.11
Allele length
AssemblyAllele length
hg38539409
hg19539408
hg18539408
hg17539408
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 Nsp SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6979944
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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