A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3410308



Internal ID15257268
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 StatusM
Merged Variants
Supporting Variantsessv8671496, essv8671495
SamplesNA12891, NA12878
Known GenesSGCZ
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3410308
Frequency
Sample Size185
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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