A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv138n21



Internal ID18990611
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:67589167..67591159hg38UCSC Ensembl
chr14:68055884..68057876hg19UCSC Ensembl
chr14:67125637..67127629hg18UCSC Ensembl
chr14:67125637..67127629hg17UCSC Ensembl
Cytoband14q24.1
Allele length
AssemblyAllele length
hg381993
hg191993
hg181993
hg171993
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv519078, nsv516552
Samples
Known GenesPIGH, PLEKHH1
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)dgv138n21
Frequency
Sample Size2026
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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