A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv1148e214



Internal ID22757042
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:150652572..150670289hg38UCSC Ensembl
chr5:150032134..150049851hg19UCSC Ensembl
Cytoband5q33.1
Allele length
AssemblyAllele length
hg3817718
hg1917718
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv3607164, esv3607163
SamplesNA20588, NA20513
Known GenesMYOZ3, SYNPO
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)dgv1148e214
Frequency
Sample Size2504
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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