A curated catalogue of human genomic structural variation




Variant Details

Variant: essv9761339



Internal ID18388899
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:135155649..135155767hg38UCSC Ensembl
Outerchr3:135155642..135155781hg38UCSC Ensembl
Innerchr3:134874491..134874609hg19UCSC Ensembl
Outerchr3:134874484..134874623hg19UCSC Ensembl
Cytoband3q22.2
Allele length
AssemblyAllele length
hg38140
hg19140
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3562592
Supporting Variants
Samples
Known GenesEPHB1
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)essv9761339
Frequency
Sample Size767
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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