A curated catalogue of human genomic structural variation




Variant Details

Variant: essv9742849



Internal ID18717095
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:119096751..119099650hg38UCSC Ensembl
Outerchr8:119096209..119099752hg38UCSC Ensembl
Innerchr8:120108990..120111889hg19UCSC Ensembl
Outerchr8:120108448..120111991hg19UCSC Ensembl
Cytoband8q24.12
Allele length
AssemblyAllele length
hg383544
hg193544
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3544102
Supporting Variants
Samples
Known GenesCOLEC10
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)essv9742849
Frequency
Sample Size767
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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