A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8694679



Internal ID15084992
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:178656245..178658543hg38UCSC Ensembl
Innerchr5:178657245..178657543hg38UCSC Ensembl
Outerchr5:178655245..178659543hg38UCSC Ensembl
chr5:178083246..178085544hg19UCSC Ensembl
Innerchr5:178084246..178084544hg19UCSC Ensembl
Outerchr5:178082246..178086544hg19UCSC Ensembl
chr5:178015852..178018150hg18UCSC Ensembl
Innerchr5:178016852..178017150hg18UCSC Ensembl
Outerchr5:178014852..178019150hg18UCSC Ensembl
Cytoband5q35.3
Allele length
AssemblyAllele length
hg382299
hg192299
hg182299
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3381395
Supporting Variants
SamplesNA19240
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8694679
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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