A curated catalogue of human genomic structural variation




Variant Details

Variant: essv9742861



Internal ID18717107
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:120669444..120669736hg38UCSC Ensembl
Outerchr8:120669385..120669816hg38UCSC Ensembl
Innerchr8:121681684..121681976hg19UCSC Ensembl
Outerchr8:121681625..121682056hg19UCSC Ensembl
Cytoband8q24.12
Allele length
AssemblyAllele length
hg38432
hg19432
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3544114
Supporting Variants
Samples
Known GenesSNTB1
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)essv9742861
Frequency
Sample Size767
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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