A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14657512



Internal ID4659328
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:19817399..19825453hg38UCSC Ensembl
chr13:20391539..20399593hg19UCSC Ensembl
Cytoband13q12.11
Allele length
AssemblyAllele length
hg388055
hg198055
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3631403
Supporting Variants
SamplesHG00137
Known GenesZMYM5
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14657512
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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