A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14613051



Internal ID440491
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:117393693..117399132hg38UCSC Ensembl
chr12:117831498..117836937hg19UCSC Ensembl
Cytoband12q24.22
Allele length
AssemblyAllele length
hg385440
hg195440
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3630867
Supporting Variants
SamplesHG00137
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14613051
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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