A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3302469



Internal ID15149416
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:53345533..53345659hg38UCSC Ensembl
Innerchr6:53345596..53345596hg38UCSC Ensembl
Outerchr6:53345433..53345759hg38UCSC Ensembl
chr6:53210331..53210457hg19UCSC Ensembl
Innerchr6:53210394..53210394hg19UCSC Ensembl
Outerchr6:53210231..53210557hg19UCSC Ensembl
chr6:53318290..53318416hg18UCSC Ensembl
Innerchr6:53318353..53318353hg18UCSC Ensembl
Outerchr6:53318190..53318516hg18UCSC Ensembl
Cytoband6p12.1
Allele length
AssemblyAllele length
hg38127
hg19127
hg18127
Variant TypeCNV tandem duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3514e59
Supporting Variantsessv7731634, essv7730850, essv7731193, essv7731506, essv7731008
SamplesNA12891, NA19238, NA12878, NA12892, NA19240
Known GenesELOVL5
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3302469
Frequency
Sample Size185
Observed Gain5
Observed Loss0
Observed Complex0
Frequencyn/a


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