A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6986542



Internal ID12631935
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:51724663..52101372hg38UCSC Ensembl
Innerchr19:52227916..52604625hg19UCSC Ensembl
Innerchr19:56919728..57296437hg18UCSC Ensembl
Innerchr19:56919728..57296437hg17UCSC Ensembl
Cytoband19q13.33
Allele length
AssemblyAllele length
hg38376710
hg19376710
hg18376710
hg17376710
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv34938
Supporting Variants
SamplesNA11832
Known GenesFPR1, FPR2, FPR3, HCCAT3, ZNF350, ZNF432, ZNF577, ZNF613, ZNF614, ZNF615, ZNF649, ZNF841
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6986542
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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