A curated catalogue of human genomic structural variation




Variant Details

Variant: essv9742836



Internal ID18717082
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:117861874..117863332hg38UCSC Ensembl
Outerchr8:117861485..117863459hg38UCSC Ensembl
Innerchr8:118874113..118875571hg19UCSC Ensembl
Outerchr8:118873724..118875698hg19UCSC Ensembl
Cytoband8q24.11
Allele length
AssemblyAllele length
hg381975
hg191975
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3544089
Supporting Variants
Samples
Known GenesEXT1
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)essv9742836
Frequency
Sample Size767
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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