A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3302576



Internal ID15149523
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:9809070..9809266hg38UCSC Ensembl
Innerchr18:9809168..9809168hg38UCSC Ensembl
Outerchr18:9808970..9809366hg38UCSC Ensembl
chr18:9809067..9809263hg19UCSC Ensembl
Innerchr18:9809165..9809165hg19UCSC Ensembl
Outerchr18:9808967..9809363hg19UCSC Ensembl
chr18:9799067..9799263hg18UCSC Ensembl
Innerchr18:9799165..9799165hg18UCSC Ensembl
Outerchr18:9798967..9799363hg18UCSC Ensembl
Cytoband18p11.22
Allele length
AssemblyAllele length
hg38197
hg19197
hg18197
Variant TypeCNV tandem duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1849e59
Supporting Variantsessv7731016, essv7731626, essv7730908, essv7731396, essv7731156
SamplesNA12891, NA19238, NA12878, NA12892, NA19240
Known GenesRAB31
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3302576
Frequency
Sample Size185
Observed Gain5
Observed Loss0
Observed Complex0
Frequencyn/a


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