A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3302750



Internal ID15149698
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:62143061..62143196hg38UCSC Ensembl
Innerchr11:62143128..62143128hg38UCSC Ensembl
Outerchr11:62142961..62143296hg38UCSC Ensembl
chr11:61910533..61910668hg19UCSC Ensembl
Innerchr11:61910600..61910600hg19UCSC Ensembl
Outerchr11:61910433..61910768hg19UCSC Ensembl
chr11:61667109..61667244hg18UCSC Ensembl
Innerchr11:61667176..61667176hg18UCSC Ensembl
Outerchr11:61667009..61667344hg18UCSC Ensembl
Cytoband11q12.3
Allele length
AssemblyAllele length
hg38136
hg19136
hg18136
Variant TypeCNV tandem duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv655e59
Supporting Variantsessv7736770, essv7732768, essv7734220, essv7732286, essv7736767, essv7733967, essv7732969, essv7736438, essv7736853, essv7736887, essv7736495, essv7739229, essv7737372, essv7737131, essv7737811, essv7737517, essv7732602, essv7732081, essv7735272, essv7738504, essv7738427, essv7733401, essv7735423, essv7738197, essv7733505, essv7732852, essv7735678, essv7736284, essv7734365, essv7734709, essv7736594, essv7732483, essv7733581, essv7732374, essv7733683
SamplesNA11995, NA18592, NA18508, NA10851, NA12414, NA11931, NA18603, NA12751, NA18545, NA07357, NA07346, NA19005, NA18944, NA18550, NA18519, NA18916, NA19138, NA19238, NA12044, NA19239, NA18605, NA12489, NA12003, NA18956, NA18948, NA18573, NA11894, NA12249, NA18570, NA18858, NA18593, NA19108, NA19240, NA07037, NA06986
Known GenesINCENP
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3302750
Frequency
Sample Size185
Observed Gain35
Observed Loss0
Observed Complex0
Frequencyn/a


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