A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6987544



Internal ID12630060
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:51788311..52098687hg38UCSC Ensembl
Innerchr19:52291564..52601940hg19UCSC Ensembl
Innerchr19:56983376..57293752hg18UCSC Ensembl
Innerchr19:56983376..57293752hg17UCSC Ensembl
Cytoband19q13.33
Allele length
AssemblyAllele length
hg38310377
hg19310377
hg18310377
hg17310377
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2751800
Supporting Variants
SamplesBEC_686
Known GenesFPR3, 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)essv6987544
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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