A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6979369



Internal ID12633364
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:42828727..43169038hg38UCSC Ensembl
Innerchr19:43332879..43673190hg19UCSC Ensembl
Innerchr19:48024719..48365030hg18UCSC Ensembl
Innerchr19:48024719..48365030hg17UCSC Ensembl
Cytoband19q13.2
Allele length
AssemblyAllele length
hg38340312
hg19340312
hg18340312
hg17340312
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv34661
Supporting Variants
SamplesNA18537
Known GenesPSG1, PSG10P, PSG11, PSG2, PSG5, PSG6, PSG7
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6979369
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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