A curated catalogue of human genomic structural variation




Variant Details

Variant: esv34661



Internal ID12644011
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:42736227..43169038hg38UCSC Ensembl
Innerchr19:43240379..43673190hg19UCSC Ensembl
Innerchr19:47932219..48365030hg18UCSC Ensembl
Innerchr19:47932219..48365030hg17UCSC Ensembl
Cytoband19q13.2
Allele length
AssemblyAllele length
hg38432812
hg19432812
hg18432812
hg17432812
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv140e55
Supporting Variantsessv6990356, essv6979369, essv6986843
SamplesNA18537
Known GenesLOC100289650, PSG1, PSG10P, PSG11, PSG2, PSG3, PSG5, PSG6, PSG7, PSG8
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)esv34661
Frequency
Sample Size771
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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