A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8674021



Internal ID15115679
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:42817607..42817615hg38UCSC Ensembl
Innerchr1:42817601..42817619hg38UCSC Ensembl
Outerchr1:42817593..42817627hg38UCSC Ensembl
chr1:43283278..43283286hg19UCSC Ensembl
Innerchr1:43283272..43283290hg19UCSC Ensembl
Outerchr1:43283264..43283298hg19UCSC Ensembl
chr1:43055865..43055873hg18UCSC Ensembl
Innerchr1:43055877..43055859hg18UCSC Ensembl
Outerchr1:43055851..43055885hg18UCSC Ensembl
Cytoband1p34.2
Allele length
AssemblyAllele length
hg38287
hg19287
hg18287
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3380077
Supporting Variants
SamplesNA19240
Known GenesERMAP
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8674021
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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