A curated catalogue of human genomic structural variation




Variant Details

Variant: essv9759533



Internal ID18733779
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:196749911..196750198hg38UCSC Ensembl
Outerchr2:196749882..196750270hg38UCSC Ensembl
Innerchr2:197614635..197614922hg19UCSC Ensembl
Outerchr2:197614606..197614994hg19UCSC Ensembl
Cytoband2q33.1
Allele length
AssemblyAllele length
hg38389
hg19389
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3560786
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)essv9759533
Frequency
Sample Size767
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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