A curated catalogue of human genomic structural variation




Variant Details

Variant: essv9765240



Internal ID18739486
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:115217173..115217309hg38UCSC Ensembl
Outerchr5:115217167..115217317hg38UCSC Ensembl
Innerchr5:114552870..114553006hg19UCSC Ensembl
Outerchr5:114552864..114553014hg19UCSC Ensembl
Cytoband5q22.3
Allele length
AssemblyAllele length
hg38151
hg19151
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3566493
Supporting Variants
Samples
Known GenesPGGT1B
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)essv9765240
Frequency
Sample Size767
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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