A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15030683



Internal ID5137498
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:59987832..60036440hg38UCSC Ensembl
Innerchr14:59987832..60036440hg38UCSC Ensembl
Outerchr14:59987332..60036940hg38UCSC Ensembl
chr14:60454550..60503158hg19UCSC Ensembl
Innerchr14:60454550..60503158hg19UCSC Ensembl
Outerchr14:60454050..60503658hg19UCSC Ensembl
Cytoband14q23.1
Allele length
AssemblyAllele length
hg3848609
hg1948609
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3634662
Supporting Variants
SamplesNA18571
Known GenesLRRC9
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15030683
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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