A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6986543



Internal ID12631934
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:51846801..52030052hg38UCSC Ensembl
Innerchr19:52350054..52533305hg19UCSC Ensembl
Innerchr19:57041866..57225117hg18UCSC Ensembl
Innerchr19:57041866..57225117hg17UCSC Ensembl
Cytoband19q13.33
Allele length
AssemblyAllele length
hg38183252
hg19183252
hg18183252
hg17183252
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv34938
Supporting Variants
SamplesNA11832
Known GenesHCCAT3, ZNF350, ZNF577, ZNF613, ZNF614, ZNF615, ZNF649
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6986543
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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