A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7864502



Internal ID13317016
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:115779868..115779877hg38UCSC Ensembl
Innerchr5:115779861..115779884hg38UCSC Ensembl
Outerchr5:115779852..115779893hg38UCSC Ensembl
chr5:115115565..115115574hg19UCSC Ensembl
Innerchr5:115115558..115115581hg19UCSC Ensembl
Outerchr5:115115549..115115590hg19UCSC Ensembl
chr5:115143464..115143473hg18UCSC Ensembl
Innerchr5:115143480..115143457hg18UCSC Ensembl
Outerchr5:115143448..115143489hg18UCSC Ensembl
Cytoband5q22.3
Allele length
AssemblyAllele length
hg3850
hg1950
hg1850
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3446885
Supporting Variants
SamplesNA12005
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv7864502
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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