A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15046150



Internal ID5047966
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:67089063..67105527hg38UCSC Ensembl
Innerchr14:67089063..67105527hg38UCSC Ensembl
Outerchr14:67088685..67105731hg38UCSC Ensembl
chr14:67555780..67572244hg19UCSC Ensembl
Innerchr14:67555780..67572244hg19UCSC Ensembl
Outerchr14:67555402..67572448hg19UCSC Ensembl
Cytoband14q23.3
Allele length
AssemblyAllele length
hg3816465
hg1916465
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3634799
Supporting Variants
SamplesHG02819
Known GenesGPHN
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15046150
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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