A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6989888



Internal ID12630785
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:42833953..43181778hg38UCSC Ensembl
Innerchr19:43338105..43685930hg19UCSC Ensembl
Innerchr19:48029945..48377770hg18UCSC Ensembl
Innerchr19:48029945..48377770hg17UCSC Ensembl
Cytoband19q13.2
Allele length
AssemblyAllele length
hg38347826
hg19347826
hg18347826
hg17347826
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)essv6989888
Frequency
Sample Size771
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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