A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6979688



Internal ID12633889
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:42828727..43301176hg38UCSC Ensembl
Innerchr19:43332879..43805328hg19UCSC Ensembl
Innerchr19:48024719..48497168hg18UCSC Ensembl
Innerchr19:48024719..48497168hg17UCSC Ensembl
Cytoband19q13.2
Allele length
AssemblyAllele length
hg38472450
hg19472450
hg18472450
hg17472450
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)essv6979688
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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