A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15006471



Internal ID6515151
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:50942190..50942824hg38UCSC Ensembl
Innerchr14:50942190..50942824hg38UCSC Ensembl
Outerchr14:50942190..50942824hg38UCSC Ensembl
chr14:51408908..51409542hg19UCSC Ensembl
Innerchr14:51408908..51409542hg19UCSC Ensembl
Outerchr14:51408908..51409542hg19UCSC Ensembl
Cytoband14q22.1
Allele length
AssemblyAllele length
hg38635
hg19635
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3634494
Supporting Variants
SamplesNA20539
Known GenesPYGL
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15006471
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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