A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7734099



Internal ID12851595
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:14101478..14101479hg38UCSC Ensembl
Outerchr8:14101284..14101674hg38UCSC Ensembl
Innerchr8:13958987..13958988hg19UCSC Ensembl
Outerchr8:13958793..13959183hg19UCSC Ensembl
Innerchr8:14003359..14003358hg18UCSC Ensembl
Outerchr8:14003164..14003554hg18UCSC Ensembl
Cytoband8p22
Allele length
AssemblyAllele length
hg38391
hg19391
hg18391
Variant TypeCNV tandem duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3302774
Supporting Variants
SamplesNA11919
Known GenesSGCZ
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv7734099
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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