A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3556430



Internal ID18757506
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:42992668..43139105hg38UCSC Ensembl
Outerchr19:42983808..43148070hg38UCSC Ensembl
Innerchr19:43496820..43643257hg19UCSC Ensembl
Outerchr19:43487960..43652222hg19UCSC Ensembl
Cytoband19q13.31
Allele length
AssemblyAllele length
hg38164263
hg19164263
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9755177
Samples
Known GenesPSG11, PSG2
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)esv3556430
Frequency
Sample Size767
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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