A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14712210



Internal ID1392713
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:45762844..45778370hg38UCSC Ensembl
chr13:46336979..46352505hg19UCSC Ensembl
Cytoband13q14.13
Allele length
AssemblyAllele length
hg3815527
hg1915527
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3631969
Supporting Variants
SamplesHG01259
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14712210
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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