A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14950188



Internal ID3959783
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:28258910..28260412hg38UCSC Ensembl
Innerchr14:28258923..28260400hg38UCSC Ensembl
Outerchr14:28258898..28260425hg38UCSC Ensembl
chr14:28728116..28729618hg19UCSC Ensembl
Innerchr14:28728129..28729606hg19UCSC Ensembl
Outerchr14:28728104..28729631hg19UCSC Ensembl
Cytoband14q12
Allele length
AssemblyAllele length
hg381503
hg191503
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3633907
Supporting Variants
SamplesHG03611
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14950188
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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