A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3302687



Internal ID15149635
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:110031636..110031710hg38UCSC Ensembl
Innerchr6:110031673..110031673hg38UCSC Ensembl
Outerchr6:110031536..110031810hg38UCSC Ensembl
chr6:110352839..110352913hg19UCSC Ensembl
Innerchr6:110352876..110352876hg19UCSC Ensembl
Outerchr6:110352739..110353013hg19UCSC Ensembl
chr6:110459532..110459606hg18UCSC Ensembl
Innerchr6:110459569..110459569hg18UCSC Ensembl
Outerchr6:110459432..110459706hg18UCSC Ensembl
Cytoband6q21
Allele length
AssemblyAllele length
hg3875
hg1975
hg1875
Variant TypeCNV tandem duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7731536, essv7730898
SamplesNA19238, NA19240
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3302687
Frequency
Sample Size185
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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