A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14349742



Internal ID4351558
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:7847526..8064130hg38UCSC Ensembl
chr12:8000122..8216726hg19UCSC Ensembl
Cytoband12p13.31
Allele length
AssemblyAllele length
hg38216605
hg19216605
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3628444
Supporting Variants
SamplesHG00260
Known GenesC3AR1, FOXJ2, SLC2A14, SLC2A3
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14349742
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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