A curated catalogue of human genomic structural variation




Variant Details

Variant: esv34426



Internal ID12643779
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:42828727..43301208hg38UCSC Ensembl
Innerchr19:43332879..43805360hg19UCSC Ensembl
Innerchr19:48024719..48497200hg18UCSC Ensembl
Innerchr19:48024719..48497200hg17UCSC Ensembl
Cytoband19q13.2
Allele length
AssemblyAllele length
hg38472482
hg19472482
hg18472482
hg17472482
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv140e55
Supporting Variantsessv6980507, essv6986008
SamplesNA19203
Known GenesLOC284344, PSG1, PSG10P, PSG11, PSG2, PSG4, PSG5, PSG6, PSG7, PSG9
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
CommentsSample level SV from stringent call set
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)esv34426
Frequency
Sample Size771
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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