A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3304471



Internal ID15151419
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:106672375..106672376hg38UCSC Ensembl
Innerchr6:106672346..106672405hg38UCSC Ensembl
Outerchr6:106672345..106672406hg38UCSC Ensembl
chr6:107120250..107120251hg19UCSC Ensembl
Innerchr6:107120221..107120280hg19UCSC Ensembl
Outerchr6:107120220..107120281hg19UCSC Ensembl
chr6:107226943..107226944hg18UCSC Ensembl
Innerchr6:107226973..107226914hg18UCSC Ensembl
Outerchr6:107226913..107226974hg18UCSC Ensembl
Cytoband6q21
Allele length
AssemblyAllele length
hg38244
hg19244
hg18244
Variant TypeCNV mobile element insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7741762, essv7750240, essv7741273, essv7749149, essv7758788, essv7759008, essv7746512, essv7752855
SamplesNA18502, NA18508, NA19239, NA19210, NA18856, NA18858, NA18505, NA19129
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3304471
Frequency
Sample Size185
Observed Gain8
Observed Loss0
Observed Complex0
Frequencyn/a


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