A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6989082



Internal ID12633268
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:42828727..43034789hg38UCSC Ensembl
Innerchr19:43332879..43538941hg19UCSC Ensembl
Innerchr19:48024719..48230781hg18UCSC Ensembl
Innerchr19:48024719..48230781hg17UCSC Ensembl
Cytoband19q13.2
Allele length
AssemblyAllele length
hg38206063
hg19206063
hg18206063
hg17206063
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv34210
Supporting Variants
SamplesNA18524
Known GenesPSG1, PSG10P, PSG11, PSG6, PSG7
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6989082
Frequency
Sample Size771
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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