A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6979690



Internal ID12633890
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:42867710..43199303hg38UCSC Ensembl
Innerchr19:43371862..43703455hg19UCSC Ensembl
Innerchr19:48063702..48395295hg18UCSC Ensembl
Innerchr19:48063702..48395295hg17UCSC Ensembl
Cytoband19q13.2
Allele length
AssemblyAllele length
hg38331594
hg19331594
hg18331594
hg17331594
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv34541
Supporting Variants
SamplesNA18605
Known GenesPSG1, PSG11, PSG2, PSG4, PSG5, PSG6, PSG7
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Sty2 SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6979690
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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