A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15051764



Internal ID4727254
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:69274109..69277033hg38UCSC Ensembl
Innerchr14:69274114..69277029hg38UCSC Ensembl
Outerchr14:69274105..69277038hg38UCSC Ensembl
chr14:69740826..69743750hg19UCSC Ensembl
Innerchr14:69740831..69743746hg19UCSC Ensembl
Outerchr14:69740822..69743755hg19UCSC Ensembl
Cytoband14q24.1
Allele length
AssemblyAllele length
hg382925
hg192925
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3634834
Supporting Variants
SamplesNA06986
Known GenesGALNT16
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15051764
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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