A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8901206



Internal ID13430252
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 StatusS
Merged Variantsesv3434570
Supporting Variants
SamplesNA12249
Known GenesCD58
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8901206
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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