A curated catalogue of human genomic structural variation




Variant Details

Variant: essv9742838



Internal ID18717084
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 StatusS
Merged Variantsesv3544091
Supporting Variants
Samples
Known GenesEXT1
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)essv9742838
Frequency
Sample Size767
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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