A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8653422



Internal ID14683952
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:122077261..122077261hg38UCSC Ensembl
Innerchr5:122077260..122077262hg38UCSC Ensembl
Outerchr5:122077211..122077311hg38UCSC Ensembl
chr5:121412956..121412956hg19UCSC Ensembl
Innerchr5:121412955..121412957hg19UCSC Ensembl
Outerchr5:121412906..121413006hg19UCSC Ensembl
chr5:121440855..121440855hg18UCSC Ensembl
Innerchr5:121440856..121440854hg18UCSC Ensembl
Outerchr5:121440805..121440905hg18UCSC Ensembl
Cytoband5q23.1
Allele length
AssemblyAllele length
hg381619
hg191619
hg181619
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag0
Merged StatusS
Merged Variantsesv3409730
Supporting Variants
SamplesNA19238
Known GenesLOX
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8653422
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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