A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3634864



Internal ID7021664
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:70580456..70582598hg38UCSC Ensembl
Innerchr14:70580456..70582598hg38UCSC Ensembl
Outerchr14:70580164..70582861hg38UCSC Ensembl
chr14:71047173..71049315hg19UCSC Ensembl
Innerchr14:71047173..71049315hg19UCSC Ensembl
Outerchr14:71046881..71049578hg19UCSC Ensembl
Cytoband14q24.2
Allele length
AssemblyAllele length
hg382143
hg192143
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv15052689, essv15052693, essv15052694, essv15052690, essv15052688, essv15052692, essv15052691
SamplesHG02386, HG00442, HG00451, NA18560, HG00557, HG00653, HG00619
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3634864
Frequency
Sample Size2504
Observed Gain0
Observed Loss7
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer