A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8671496



Internal ID13706914
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:14101382..14101571hg38UCSC Ensembl
Innerchr8:14101389..14101562hg38UCSC Ensembl
Outerchr8:14101373..14101578hg38UCSC Ensembl
chr8:13958891..13959080hg19UCSC Ensembl
Innerchr8:13958898..13959071hg19UCSC Ensembl
Outerchr8:13958882..13959087hg19UCSC Ensembl
chr8:14003262..14003451hg18UCSC Ensembl
Innerchr8:14003269..14003442hg18UCSC Ensembl
Outerchr8:14003253..14003458hg18UCSC Ensembl
Cytoband8p22
Allele length
AssemblyAllele length
hg38190
hg19190
hg18190
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3410308
Supporting Variants
SamplesNA12891
Known GenesSGCZ
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8671496
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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