A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3543619



Internal ID18744695
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:68505453..68505749hg38UCSC Ensembl
Outerchr8:68505403..68505809hg38UCSC Ensembl
Innerchr8:69417688..69417984hg19UCSC Ensembl
Outerchr8:69417638..69418044hg19UCSC Ensembl
Cytoband8q13.2
Allele length
AssemblyAllele length
hg38407
hg19407
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9742366
Samples
Known GenesC8orf34
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)esv3543619
Frequency
Sample Size767
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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