A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3543296



Internal ID18744372
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:30746702..30748010hg38UCSC Ensembl
Outerchr8:30746314..30748237hg38UCSC Ensembl
Innerchr8:30604219..30605527hg19UCSC Ensembl
Outerchr8:30603831..30605754hg19UCSC Ensembl
Cytoband8p12
Allele length
AssemblyAllele length
hg381924
hg191924
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9742043
Samples
Known GenesUBXN8
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)esv3543296
Frequency
Sample Size767
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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