A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3543407



Internal ID18397797
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:40612255..40612809hg38UCSC Ensembl
Outerchr8:40612132..40612941hg38UCSC Ensembl
Innerchr8:40469774..40470328hg19UCSC Ensembl
Outerchr8:40469651..40470460hg19UCSC Ensembl
Cytoband8p11.21
Allele length
AssemblyAllele length
hg38810
hg19810
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9742154
Samples
Known GenesZMAT4
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)esv3543407
Frequency
Sample Size767
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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