A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3434570



Internal ID15281524
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:116548647..116548681hg38UCSC Ensembl
Innerchr1:116548653..116548672hg38UCSC Ensembl
Outerchr1:116548622..116548706hg38UCSC Ensembl
chr1:117091269..117091303hg19UCSC Ensembl
Innerchr1:117091275..117091294hg19UCSC Ensembl
Outerchr1:117091244..117091328hg19UCSC Ensembl
chr1:116892792..116892826hg18UCSC Ensembl
Innerchr1:116892817..116892798hg18UCSC Ensembl
Outerchr1:116892767..116892851hg18UCSC Ensembl
Cytoband1p13.1
Allele length
AssemblyAllele length
hg38176
hg19176
hg18176
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8901207, essv8901206
SamplesNA12249, NA07051
Known GenesCD58
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3434570
Frequency
Sample Size185
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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