A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6980930



Internal ID12635613
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:22808758..23462358hg38UCSC Ensembl
Innerchr19:22991560..23645160hg19UCSC Ensembl
Innerchr19:22783400..23437000hg18UCSC Ensembl
Innerchr19:22783400..23437000hg17UCSC Ensembl
Cytoband19p12
Allele length
AssemblyAllele length
hg38653601
hg19653601
hg18653601
hg17653601
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv34470
Supporting Variants
SamplesNA19145
Known GenesLOC100132815, ZNF724P, ZNF728, ZNF730, ZNF91
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Sty2 SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6980930
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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