A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15005293



Internal ID3475053
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 StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3634473
Supporting Variants
SamplesHG03091
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15005293
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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