A curated catalogue of human genomic structural variation




Variant Details

Variant: essv9742035



Internal ID18369595
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:30067012..30069640hg38UCSC Ensembl
Outerchr8:30066917..30069772hg38UCSC Ensembl
Innerchr8:29924528..29927156hg19UCSC Ensembl
Outerchr8:29924433..29927288hg19UCSC Ensembl
Cytoband8p12
Allele length
AssemblyAllele length
hg382856
hg192856
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3543288
Supporting Variants
Samples
Known GenesMIR548O2, TMEM66
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)essv9742035
Frequency
Sample Size767
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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