A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3607163



Internal ID6994098
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:150652572..150669383hg38UCSC Ensembl
chr5:150032134..150048945hg19UCSC Ensembl
Cytoband5q33.1
Allele length
AssemblyAllele length
hg3816812
hg1916812
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1148e214
Supporting Variantsessv12095962, essv12095961
SamplesNA20588, NA20513
Known GenesMYOZ3, SYNPO
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3607163
Frequency
Sample Size2504
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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