A curated catalogue of human genomic structural variation




Variant Details

Variant: esv34628



Internal ID12643978
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 StatusM
Merged Variantsdgv139e55
Supporting Variantsessv6990428, essv6979960, essv6979959, essv6986980
SamplesNA18863
Known GenesCHST8, KCTD15, PEPD
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Affymetrix Mapping 250K Sty2 SNP Array
CommentsSample level SV from stringent call set
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)esv34628
Frequency
Sample Size771
Observed Gain4
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer