A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14944606



Internal ID5515524
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:25142235..25144515hg38UCSC Ensembl
Innerchr14:25142235..25144515hg38UCSC Ensembl
Outerchr14:25142147..25144625hg38UCSC Ensembl
chr14:25611441..25613721hg19UCSC Ensembl
Innerchr14:25611441..25613721hg19UCSC Ensembl
Outerchr14:25611353..25613831hg19UCSC Ensembl
Cytoband14q12
Allele length
AssemblyAllele length
hg382281
hg192281
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3633821
Supporting Variants
SamplesNA18990
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14944606
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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