A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7731514



Internal ID13627130
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:87869366..87869424hg38UCSC Ensembl
Innerchr6:87869394..87869395hg38UCSC Ensembl
Outerchr6:87869266..87869524hg38UCSC Ensembl
chr6:88579084..88579142hg19UCSC Ensembl
Innerchr6:88579112..88579113hg19UCSC Ensembl
Outerchr6:88578984..88579242hg19UCSC Ensembl
chr6:88635803..88635861hg18UCSC Ensembl
Innerchr6:88635832..88635831hg18UCSC Ensembl
Outerchr6:88635703..88635961hg18UCSC Ensembl
Cytoband6q15
Allele length
AssemblyAllele length
hg3859
hg1959
hg1859
Variant TypeCNV tandem duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3302660
Supporting Variants
SamplesNA12878
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv7731514
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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