A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8673783



Internal ID13366750
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:163119029..163119077hg38UCSC Ensembl
Innerchr1:163119042..163119061hg38UCSC Ensembl
Outerchr1:163118994..163119112hg38UCSC Ensembl
chr1:163088819..163088867hg19UCSC Ensembl
Innerchr1:163088832..163088851hg19UCSC Ensembl
Outerchr1:163088784..163088902hg19UCSC Ensembl
chr1:161355443..161355491hg18UCSC Ensembl
Innerchr1:161355475..161355456hg18UCSC Ensembl
Outerchr1:161355408..161355526hg18UCSC Ensembl
Cytoband1q23.3
Allele length
AssemblyAllele length
hg38289
hg19289
hg18289
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3365059
Supporting Variants
SamplesNA12891
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8673783
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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