A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6981540



Internal ID12625598
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:42693883..43166443hg38UCSC Ensembl
Innerchr19:43198035..43670595hg19UCSC Ensembl
Innerchr19:47889875..48362435hg18UCSC Ensembl
Innerchr19:47889875..48362435hg17UCSC Ensembl
Cytoband19q13.2
Allele length
AssemblyAllele length
hg38472561
hg19472561
hg18472561
hg17472561
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2751786
Supporting Variants
SamplesBEC_298
Known GenesLOC100289650, PSG1, PSG10P, PSG11, PSG2, PSG3, PSG6, PSG7, PSG8
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6981540
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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