A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15052460



Internal ID2619261
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:69813550..69815769hg38UCSC Ensembl
Innerchr14:69813572..69815748hg38UCSC Ensembl
Outerchr14:69813529..69815791hg38UCSC Ensembl
chr14:70280267..70282486hg19UCSC Ensembl
Innerchr14:70280289..70282465hg19UCSC Ensembl
Outerchr14:70280246..70282508hg19UCSC Ensembl
Cytoband14q24.2
Allele length
AssemblyAllele length
hg382220
hg192220
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3634844
Supporting Variants
SamplesHG02317
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15052460
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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