A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3379472



Internal ID15226444
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:60274672..60274691hg38UCSC Ensembl
Innerchr14:60274668..60274695hg38UCSC Ensembl
Outerchr14:60274649..60274714hg38UCSC Ensembl
chr14:60741390..60741409hg19UCSC Ensembl
Innerchr14:60741386..60741413hg19UCSC Ensembl
Outerchr14:60741367..60741432hg19UCSC Ensembl
chr14:59811143..59811162hg18UCSC Ensembl
Innerchr14:59811166..59811139hg18UCSC Ensembl
Outerchr14:59811120..59811185hg18UCSC Ensembl
Cytoband14q23.1
Allele length
AssemblyAllele length
hg38300
hg19300
hg18300
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9666458, essv9666480, essv9666469
SamplesNA12872, NA12873, NA19143
Known GenesPPM1A
MethodSequencing
Analysis
Platform454
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3379472
Frequency
Sample Size185
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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