A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3632606



Internal ID7019416
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:68872598..68875827hg38UCSC Ensembl
Innerchr13:68872598..68875827hg38UCSC Ensembl
Outerchr13:68872346..68876089hg38UCSC Ensembl
chr13:69446730..69449959hg19UCSC Ensembl
Innerchr13:69446730..69449959hg19UCSC Ensembl
Outerchr13:69446478..69450221hg19UCSC Ensembl
Cytoband13q21.33
Allele length
AssemblyAllele length
hg383230
hg193230
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv14784264
SamplesHG00326
Known GenesLINC00550
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3632606
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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