A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15010574



Internal ID3153163
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:51980086..51983586hg38UCSC Ensembl
Innerchr14:51980093..51983579hg38UCSC Ensembl
Outerchr14:51980079..51983593hg38UCSC Ensembl
chr14:52446804..52450304hg19UCSC Ensembl
Innerchr14:52446811..52450297hg19UCSC Ensembl
Outerchr14:52446797..52450311hg19UCSC Ensembl
Cytoband14q22.1
Allele length
AssemblyAllele length
hg383501
hg193501
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3634511
Supporting Variants
SamplesHG02775
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15010574
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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