A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3634408



Internal ID7021211
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:47257890..47278345hg38UCSC Ensembl
Innerchr14:47257890..47278345hg38UCSC Ensembl
Outerchr14:47257390..47278845hg38UCSC Ensembl
chr14:47727093..47747548hg19UCSC Ensembl
Innerchr14:47727093..47747548hg19UCSC Ensembl
Outerchr14:47726593..47748048hg19UCSC Ensembl
Cytoband14q21.3
Allele length
AssemblyAllele length
hg3820456
hg1920456
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv400e214
Supporting Variantsessv15003283, essv15003285, essv15003284
SamplesHG03558, HG03069, HG02470
Known GenesMDGA2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3634408
Frequency
Sample Size2504
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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