A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv80e214



Internal ID20121503
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:236718383..236728677hg38UCSC Ensembl
chr1:236881683..236891977hg19UCSC Ensembl
Cytoband1q43
Allele length
AssemblyAllele length
hg3810295
hg1910295
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv3589225, esv3589224
SamplesHG00182, NA11832
Known GenesACTN2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)dgv80e214
Frequency
Sample Size2504
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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