A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3627847



Internal ID6667991
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:117310196..117312217hg38UCSC Ensembl
Innerchr11:117310199..117312215hg38UCSC Ensembl
Outerchr11:117310194..117312220hg38UCSC Ensembl
chr11:117180912..117182933hg19UCSC Ensembl
Innerchr11:117180915..117182931hg19UCSC Ensembl
Outerchr11:117180910..117182936hg19UCSC Ensembl
Cytoband11q23.3
Allele length
AssemblyAllele length
hg382022
hg192022
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv14292664, essv14292671, essv14292672, essv14292666, essv14292668, essv14292665, essv14292662, essv14292669, essv14292670, essv14292667, essv14292663
SamplesNA18545, NA18969, HG00689, NA18966, NA18973, NA18747, HG00701, NA19003, HG00565, HG03615, HG00728
Known GenesBACE1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3627847
Frequency
Sample Size2504
Observed Gain0
Observed Loss11
Observed Complex0
Frequencyn/a


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