A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3616259



Internal ID7003146
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:11841916..11843836hg38UCSC Ensembl
Innerchr8:11841970..11843783hg38UCSC Ensembl
Outerchr8:11841863..11843890hg38UCSC Ensembl
chr8:11699425..11701345hg19UCSC Ensembl
Innerchr8:11699479..11701292hg19UCSC Ensembl
Outerchr8:11699372..11701399hg19UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg381921
hg191921
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv13104160, essv13104159, essv13104158
SamplesNA19399, NA19384, NA19025
Known GenesCTSB
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3616259
Frequency
Sample Size2504
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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