A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8688142



Internal ID15078758
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:79376890..79379288hg38UCSC Ensembl
Innerchr10:79377890..79378288hg38UCSC Ensembl
Outerchr10:79375890..79380288hg38UCSC Ensembl
chr10:81136646..81139044hg19UCSC Ensembl
Innerchr10:81137646..81138044hg19UCSC Ensembl
Outerchr10:81135646..81140044hg19UCSC Ensembl
chr10:80806652..80809050hg18UCSC Ensembl
Innerchr10:80807652..80808050hg18UCSC Ensembl
Outerchr10:80805652..80810050hg18UCSC Ensembl
Cytoband10q22.3
Allele length
AssemblyAllele length
hg382399
hg192399
hg182399
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3351209
Supporting Variants
SamplesNA19240
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8688142
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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