A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6989475



Internal ID12631375
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:42867708..43207408hg38UCSC Ensembl
Innerchr19:43371860..43711560hg19UCSC Ensembl
Innerchr19:48063700..48403400hg18UCSC Ensembl
Innerchr19:48063700..48403400hg17UCSC Ensembl
Cytoband19q13.2
Allele length
AssemblyAllele length
hg38339701
hg19339701
hg18339701
hg17339701
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2751793
Supporting Variants
SamplesBEC_98
Known GenesPSG1, PSG11, PSG2, PSG4, PSG5, PSG6, PSG7
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Sty2 SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6989475
Frequency
Sample Size771
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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