A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8670990



Internal ID15100575
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:123833352..123833932hg38UCSC Ensembl
Innerchr2:123833368..123833916hg38UCSC Ensembl
Outerchr2:123833336..123833948hg38UCSC Ensembl
chr2:124590929..124591509hg19UCSC Ensembl
Innerchr2:124590945..124591493hg19UCSC Ensembl
Outerchr2:124590913..124591525hg19UCSC Ensembl
chr2:124307399..124307979hg18UCSC Ensembl
Innerchr2:124307415..124307963hg18UCSC Ensembl
Outerchr2:124307383..124307995hg18UCSC Ensembl
Cytoband2q14.3
Allele length
AssemblyAllele length
hg38581
hg19581
hg18581
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3354412
Supporting Variants
SamplesNA19240
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8670990
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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