A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8912961



Internal ID13749334
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:43550668..43550708hg38UCSC Ensembl
Innerchr3:43550669..43550705hg38UCSC Ensembl
Outerchr3:43550629..43550745hg38UCSC Ensembl
chr3:43592160..43592200hg19UCSC Ensembl
Innerchr3:43592161..43592197hg19UCSC Ensembl
Outerchr3:43592121..43592237hg19UCSC Ensembl
chr3:43567164..43567204hg18UCSC Ensembl
Innerchr3:43567201..43567165hg18UCSC Ensembl
Outerchr3:43567125..43567241hg18UCSC Ensembl
Cytoband3p22.1
Allele length
AssemblyAllele length
hg38192
hg19192
hg18192
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3374423
Supporting Variants
SamplesNA18489
Known GenesANO10
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8912961
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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