A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3544091



Internal ID18745167
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:117968552..117968831hg38UCSC Ensembl
Outerchr8:117968489..117968918hg38UCSC Ensembl
Innerchr8:118980791..118981070hg19UCSC Ensembl
Outerchr8:118980728..118981157hg19UCSC Ensembl
Cytoband8q24.11
Allele length
AssemblyAllele length
hg38430
hg19430
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9742838
Samples
Known GenesEXT1
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)esv3544091
Frequency
Sample Size767
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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