A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3633619



Internal ID7020427
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:113785966..113797000hg38UCSC Ensembl
chr13:114488939..114499973hg19UCSC Ensembl
Cytoband13q34
Allele length
AssemblyAllele length
hg3811035
hg1911035
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv14909150, essv14909160, essv14909153, essv14909148, essv14909156, essv14909151, essv14909157, essv14909149, essv14909159, essv14909146, essv14909155, essv14909158, essv14909152, essv14909154, essv14909145, essv14909147
SamplesHG02981, NA19189, HG03225, NA19451, HG00739, NA19913, NA20767, HG01130, NA19149, HG03920, HG03304, NA19078, NA19438, HG03166, NA19431, HG03265
Known GenesTMEM255B
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3633619
Frequency
Sample Size2504
Observed Gain16
Observed Loss0
Observed Complex0
Frequencyn/a


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