A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6985841



Internal ID12637434
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:20554022..20802619hg38UCSC Ensembl
Innerchr19:20736828..20985425hg19UCSC Ensembl
Innerchr19:20528668..20777265hg18UCSC Ensembl
Innerchr19:20528668..20777265hg17UCSC Ensembl
Cytoband19p12
Allele length
AssemblyAllele length
hg38248598
hg19248598
hg18248598
hg17248598
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2751781
Supporting Variants
SamplesSPC_65
Known GenesZNF626, ZNF737
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6985841
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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