A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv667e214



Internal ID22756561
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:49130606..49174364hg38UCSC Ensembl
chr19:49633863..49677621hg19UCSC Ensembl
Cytoband19q13.33
Allele length
AssemblyAllele length
hg3843759
hg1943759
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv3644614, esv3644615
SamplesHG03057, HG00306, HG00369, HG00182, NA12718, HG03382, HG02051
Known GenesHRC, PPFIA3, TRPM4
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)dgv667e214
Frequency
Sample Size2504
Observed Gain7
Observed Loss0
Observed Complex0
Frequencyn/a


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