A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6986008



Internal ID12635849
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:42879108..43301208hg38UCSC Ensembl
Innerchr19:43383260..43805360hg19UCSC Ensembl
Innerchr19:48075100..48497200hg18UCSC Ensembl
Innerchr19:48075100..48497200hg17UCSC Ensembl
Cytoband19q13.2
Allele length
AssemblyAllele length
hg38422101
hg19422101
hg18422101
hg17422101
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv34426
Supporting Variants
SamplesNA19203
Known GenesLOC284344, PSG1, PSG11, PSG2, PSG4, PSG5, PSG6, PSG7, PSG9
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6986008
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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