A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3543174



Internal ID18397564
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:19197751..19197987hg38UCSC Ensembl
Outerchr8:19197710..19198059hg38UCSC Ensembl
Innerchr8:19055261..19055497hg19UCSC Ensembl
Outerchr8:19055220..19055569hg19UCSC Ensembl
Cytoband8p21.3
Allele length
AssemblyAllele length
hg38350
hg19350
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9741921
Samples
Known GenesLOC100128993
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)esv3543174
Frequency
Sample Size767
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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