A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3641586



Internal ID6681671
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:3206430..3282328hg38UCSC Ensembl
chr18:3206428..3282326hg19UCSC Ensembl
Cytoband18p11.31
Allele length
AssemblyAllele length
hg3875899
hg1975899
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv15779191
SamplesHG03937
Known GenesMYL12A, MYL12B, MYOM1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3641586
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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