A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14947409



Internal ID2977710
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:27440129..27524811hg38UCSC Ensembl
Innerchr14:27440129..27524811hg38UCSC Ensembl
Outerchr14:27439629..27525311hg38UCSC Ensembl
chr14:27909335..27994017hg19UCSC Ensembl
Innerchr14:27909335..27994017hg19UCSC Ensembl
Outerchr14:27908835..27994517hg19UCSC Ensembl
Cytoband14q12
Allele length
AssemblyAllele length
hg3884683
hg1984683
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3633877
Supporting Variants
SamplesHG02628
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14947409
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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