A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15051762



Internal ID5213561
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:69065839..69069009hg38UCSC Ensembl
Innerchr14:69065839..69069009hg38UCSC Ensembl
Outerchr14:69065635..69069136hg38UCSC Ensembl
chr14:69532556..69535726hg19UCSC Ensembl
Innerchr14:69532556..69535726hg19UCSC Ensembl
Outerchr14:69532352..69535853hg19UCSC Ensembl
Cytoband14q24.1
Allele length
AssemblyAllele length
hg383171
hg193171
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3634832
Supporting Variants
SamplesNA18620
Known GenesDCAF5
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15051762
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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