A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3543595



Internal ID18744671
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:65179657..65182516hg38UCSC Ensembl
Outerchr8:65179546..65182711hg38UCSC Ensembl
Innerchr8:66091892..66094751hg19UCSC Ensembl
Outerchr8:66091781..66094946hg19UCSC Ensembl
Cytoband8q13.1
Allele length
AssemblyAllele length
hg383166
hg193166
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9742342
Samples
Known GenesLINC00251
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)esv3543595
Frequency
Sample Size767
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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