A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6987118



Internal ID12637072
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:51796039..52030052hg38UCSC Ensembl
Innerchr19:52299292..52533305hg19UCSC Ensembl
Innerchr19:56991104..57225117hg18UCSC Ensembl
Innerchr19:56991104..57225117hg17UCSC Ensembl
Cytoband19q13.33
Allele length
AssemblyAllele length
hg38234014
hg19234014
hg18234014
hg17234014
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2751801
Supporting Variants
SamplesSPC_195
Known GenesFPR3, HCCAT3, 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)essv6987118
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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