A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3543421



Internal ID18744497
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:42072772..42073043hg38UCSC Ensembl
Outerchr8:42072692..42073107hg38UCSC Ensembl
Innerchr8:41930290..41930561hg19UCSC Ensembl
Outerchr8:41930210..41930625hg19UCSC Ensembl
Cytoband8p11.21
Allele length
AssemblyAllele length
hg38416
hg19416
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9742168
Samples
Known Genes
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)esv3543421
Frequency
Sample Size767
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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