A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8694067



Internal ID14732390
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:261869..262667hg38UCSC Ensembl
Innerchr3:261868..262668hg38UCSC Ensembl
Outerchr3:260869..263667hg38UCSC Ensembl
chr3:303552..304350hg19UCSC Ensembl
Innerchr3:303551..304351hg19UCSC Ensembl
Outerchr3:302552..305350hg19UCSC Ensembl
chr3:278552..279350hg18UCSC Ensembl
Innerchr3:279351..278551hg18UCSC Ensembl
Outerchr3:277552..280350hg18UCSC Ensembl
Cytoband3p26.3
Allele length
AssemblyAllele length
hg38799
hg19799
hg18799
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsesv3418385
Supporting Variants
SamplesNA19240
Known GenesCHL1
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8694067
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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