A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3634852



Internal ID6674966
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:70105888..70108163hg38UCSC Ensembl
Innerchr14:70105888..70108163hg38UCSC Ensembl
Outerchr14:70105655..70108400hg38UCSC Ensembl
chr14:70572605..70574880hg19UCSC Ensembl
Innerchr14:70572605..70574880hg19UCSC Ensembl
Outerchr14:70572372..70575117hg19UCSC Ensembl
Cytoband14q24.2
Allele length
AssemblyAllele length
hg382276
hg192276
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv15052483, essv15052480, essv15052489, essv15052474, essv15052477, essv15052478, essv15052485, essv15052476, essv15052472, essv15052484, essv15052482, essv15052487, essv15052475, essv15052488, essv15052473, essv15052481, essv15052479, essv15052486
SamplesNA18870, HG03069, NA19119, NA19131, HG02562, NA19026, NA18908, HG03394, HG01882, HG03446, HG01444, HG03240, NA19328, HG02971, NA19248, HG03442, HG03060, HG03538
Known GenesSLC8A3
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3634852
Frequency
Sample Size2504
Observed Gain0
Observed Loss18
Observed Complex0
Frequencyn/a


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