A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2678480



Internal ID9944585
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:117010192..117010689hg38UCSC Ensembl
Outerchr11:117010013..117010890hg38UCSC Ensembl
Innerchr11:116880908..116881405hg19UCSC Ensembl
Outerchr11:116880729..116881606hg19UCSC Ensembl
Cytoband11q23.3
Allele length
AssemblyAllele length
hg38878
hg19878
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5475952, essv5837611, essv5424934, essv5912067, essv6159381
SamplesNA18638, NA19070, HG00428, HG00662, NA18624
Known GenesSIK3
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2678480
Frequency
Sample Size1151
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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