A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3543895



Internal ID18398285
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:96753504..96753635hg38UCSC Ensembl
Outerchr8:96753501..96753638hg38UCSC Ensembl
Innerchr8:97765732..97765863hg19UCSC Ensembl
Outerchr8:97765729..97765866hg19UCSC Ensembl
Cytoband8q22.1
Allele length
AssemblyAllele length
hg38138
hg19138
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9742642
Samples
Known GenesCPQ
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)esv3543895
Frequency
Sample Size767
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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