A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15107811



Internal ID5109627
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:100169585..100290965hg38UCSC Ensembl
chr14:100635922..100757302hg19UCSC Ensembl
Cytoband14q32.2
Allele length
AssemblyAllele length
hg38121381
hg19121381
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3635496
Supporting Variants
SamplesHG01495
Known GenesMIR6764, YY1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15107811
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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