A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3543896



Internal ID18398286
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:96787835..96787898hg38UCSC Ensembl
Outerchr8:96787834..96787899hg38UCSC Ensembl
Innerchr8:97800063..97800126hg19UCSC Ensembl
Outerchr8:97800062..97800127hg19UCSC Ensembl
Cytoband8q22.1
Allele length
AssemblyAllele length
hg3866
hg1966
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9742643
Samples
Known GenesCPQ
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)esv3543896
Frequency
Sample Size767
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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