A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3424930



Internal ID15271887
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:76081940..76081956hg38UCSC Ensembl
Innerchr11:76081912..76081984hg38UCSC Ensembl
Outerchr11:76081896..76082000hg38UCSC Ensembl
chr11:75792984..75793000hg19UCSC Ensembl
Innerchr11:75792956..75793028hg19UCSC Ensembl
Outerchr11:75792940..75793044hg19UCSC Ensembl
chr11:75470632..75470648hg18UCSC Ensembl
Innerchr11:75470676..75470604hg18UCSC Ensembl
Outerchr11:75470588..75470692hg18UCSC Ensembl
Cytoband11q13.5
Allele length
AssemblyAllele length
hg3850
hg1950
hg1850
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7865496, essv7865495
SamplesNA12005, NA18516
Known GenesUVRAG
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3424930
Frequency
Sample Size185
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer