A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv1146e214



Internal ID22757040
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:149612851..149674770hg38UCSC Ensembl
chr5:148992414..149054333hg19UCSC Ensembl
Cytoband5q32
Allele length
AssemblyAllele length
hg3861920
hg1961920
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv3607147, esv3607146
SamplesHG02854, HG01342
Known GenesARHGEF37
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)dgv1146e214
Frequency
Sample Size2504
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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