A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv243e214



Internal ID18980418
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:1839407..1877266hg38UCSC Ensembl
chr12:1948573..1986432hg19UCSC Ensembl
Cytoband12p13.33
Allele length
AssemblyAllele length
hg3837860
hg1937860
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv3628296, esv3628295
SamplesNA19435, NA20314
Known GenesCACNA2D4
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)dgv243e214
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