A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8694733



Internal ID15046971
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:208937..209835hg38UCSC Ensembl
Innerchr5:208936..209836hg38UCSC Ensembl
Outerchr5:207937..210835hg38UCSC Ensembl
chr5:209052..209950hg19UCSC Ensembl
Innerchr5:209051..209951hg19UCSC Ensembl
Outerchr5:208052..210950hg19UCSC Ensembl
chr5:262052..262950hg18UCSC Ensembl
Innerchr5:262951..262051hg18UCSC Ensembl
Outerchr5:261052..263950hg18UCSC Ensembl
Cytoband5p15.33
Allele length
AssemblyAllele length
hg38899
hg19899
hg18899
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3451443
Supporting Variants
SamplesNA19239
Known GenesCCDC127
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8694733
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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