A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8693483



Internal ID15073028
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:216097984..216100782hg38UCSC Ensembl
Innerchr2:216098984..216099782hg38UCSC Ensembl
Outerchr2:216096984..216101782hg38UCSC Ensembl
chr2:216962707..216965505hg19UCSC Ensembl
Innerchr2:216963707..216964505hg19UCSC Ensembl
Outerchr2:216961707..216966505hg19UCSC Ensembl
chr2:216670952..216673750hg18UCSC Ensembl
Innerchr2:216671952..216672750hg18UCSC Ensembl
Outerchr2:216669952..216674750hg18UCSC Ensembl
Cytoband2q35
Allele length
AssemblyAllele length
hg382799
hg192799
hg182799
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3352752
Supporting Variants
SamplesNA19239
Known GenesTMEM169
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8693483
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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