A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8694732



Internal ID15085404
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:208937..209735hg38UCSC Ensembl
Innerchr5:208936..209736hg38UCSC Ensembl
Outerchr5:207937..210735hg38UCSC Ensembl
chr5:209052..209850hg19UCSC Ensembl
Innerchr5:209051..209851hg19UCSC Ensembl
Outerchr5:208052..210850hg19UCSC Ensembl
chr5:262052..262850hg18UCSC Ensembl
Innerchr5:262851..262051hg18UCSC Ensembl
Outerchr5:261052..263850hg18UCSC Ensembl
Cytoband5p15.33
Allele length
AssemblyAllele length
hg38799
hg19799
hg18799
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsesv3337071
Supporting Variants
SamplesNA19240
Known GenesCCDC127
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8694732
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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