A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15779097



Internal ID5780913
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:3200019..3415247hg38UCSC Ensembl
chr18:3200017..3415245hg19UCSC Ensembl
Cytoband18p11.31
Allele length
AssemblyAllele length
hg38215229
hg19215229
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3641584
Supporting Variants
SamplesHG03856
Known GenesMYL12A, MYL12B, MYOM1, TGIF1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15779097
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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