A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv1357e214



Internal ID20122780
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:2895602..3065852hg38UCSC Ensembl
chr8:2753124..2923374hg19UCSC Ensembl
Cytoband8p23.2
Allele length
AssemblyAllele length
hg38170251
hg19170251
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv3615897, esv3615895
SamplesNA19058, NA19448, NA19455, HG03136
Known GenesCSMD1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)dgv1357e214
Frequency
Sample Size2504
Observed Gain4
Observed Loss0
Observed Complex0
Frequencyn/a


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