A curated catalogue of human genomic structural variation




Variant Details

Variant: essv9765237



Internal ID18739483
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:114990304..114998823hg38UCSC Ensembl
Outerchr5:114988804..115000803hg38UCSC Ensembl
Innerchr5:114326001..114334520hg19UCSC Ensembl
Outerchr5:114324501..114336500hg19UCSC Ensembl
Cytoband5q22.3
Allele length
AssemblyAllele length
hg3812000
hg1912000
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3566490
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)essv9765237
Frequency
Sample Size767
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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