A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3634473



Internal ID7021276
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:49929926..49930692hg38UCSC Ensembl
Innerchr14:49929952..49930666hg38UCSC Ensembl
Outerchr14:49929900..49930718hg38UCSC Ensembl
chr14:50396644..50397410hg19UCSC Ensembl
Innerchr14:50396670..50397384hg19UCSC Ensembl
Outerchr14:50396618..50397436hg19UCSC Ensembl
Cytoband14q21.3
Allele length
AssemblyAllele length
hg38767
hg19767
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv15005294, essv15005293
SamplesHG03091, HG03380
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3634473
Frequency
Sample Size2504
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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