A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6990356



Internal ID12633370
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:42783085..43169038hg38UCSC Ensembl
Innerchr19:43287237..43673190hg19UCSC Ensembl
Innerchr19:47979077..48365030hg18UCSC Ensembl
Innerchr19:47979077..48365030hg17UCSC Ensembl
Cytoband19q13.2
Allele length
AssemblyAllele length
hg38385954
hg19385954
hg18385954
hg17385954
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv34661
Supporting Variants
SamplesNA18537
Known GenesLOC100289650, PSG1, 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)essv6990356
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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