A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6979689



Internal ID12633908
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:42833953..43264030hg38UCSC Ensembl
Innerchr19:43338105..43768182hg19UCSC Ensembl
Innerchr19:48029945..48460022hg18UCSC Ensembl
Innerchr19:48029945..48460022hg17UCSC Ensembl
Cytoband19q13.2
Allele length
AssemblyAllele length
hg38430078
hg19430078
hg18430078
hg17430078
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv34541
Supporting Variants
SamplesNA18605
Known GenesLOC284344, PSG1, PSG10P, PSG11, PSG2, PSG4, PSG5, PSG6, PSG7, PSG9
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6979689
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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