A curated catalogue of human genomic structural variation




Variant Details

Variant: essv9742905



Internal ID18717151
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:125324577..125324870hg38UCSC Ensembl
Outerchr8:125324506..125324943hg38UCSC Ensembl
Innerchr8:126336819..126337112hg19UCSC Ensembl
Outerchr8:126336748..126337185hg19UCSC Ensembl
Cytoband8q24.13
Allele length
AssemblyAllele length
hg38438
hg19438
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3544158
Supporting Variants
Samples
Known GenesNSMCE2
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)essv9742905
Frequency
Sample Size767
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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