A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15003112



Internal ID2532202
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:46561510..46584913hg38UCSC Ensembl
Innerchr14:46561510..46584913hg38UCSC Ensembl
Outerchr14:46561010..46585413hg38UCSC Ensembl
chr14:47030713..47054116hg19UCSC Ensembl
Innerchr14:47030713..47054116hg19UCSC Ensembl
Outerchr14:47030213..47054616hg19UCSC Ensembl
Cytoband14q21.2
Allele length
AssemblyAllele length
hg3823404
hg1923404
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3634392
Supporting Variants
SamplesHG02252
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15003112
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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