A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6983974



Internal ID12630790
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:42828727..43169038hg38UCSC Ensembl
Innerchr19:43332879..43673190hg19UCSC Ensembl
Innerchr19:48024719..48365030hg18UCSC Ensembl
Innerchr19:48024719..48365030hg17UCSC Ensembl
Cytoband19q13.2
Allele length
AssemblyAllele length
hg38340312
hg19340312
hg18340312
hg17340312
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2751787
Supporting Variants
SamplesBEC_739
Known GenesPSG1, PSG10P, PSG11, PSG2, PSG5, PSG6, PSG7
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6983974
Frequency
Sample Size771
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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