A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3634344



Internal ID7021147
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:45250640..45253180hg38UCSC Ensembl
Innerchr14:45250650..45253170hg38UCSC Ensembl
Outerchr14:45250630..45253190hg38UCSC Ensembl
chr14:45719843..45722383hg19UCSC Ensembl
Innerchr14:45719853..45722373hg19UCSC Ensembl
Outerchr14:45719833..45722393hg19UCSC Ensembl
Cytoband14q21.2
Allele length
AssemblyAllele length
hg382541
hg192541
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv15002628
SamplesNA21106
Known GenesMIS18BP1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3634344
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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