A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3641585



Internal ID6681670
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:3200019..3415247hg38UCSC Ensembl
chr18:3200017..3415245hg19UCSC Ensembl
Cytoband18p11.31
Allele length
AssemblyAllele length
hg38215229
hg19215229
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv15779190
SamplesHG03937
Known GenesMYL12A, MYL12B, MYOM1, TGIF1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3641585
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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