A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3344058



Internal ID14844325
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:241545364..241547362hg38UCSC Ensembl
Innerchr2:241546362..241546364hg38UCSC Ensembl
Outerchr2:241544364..241548362hg38UCSC Ensembl
chr2:242484779..242486777hg19UCSC Ensembl
Innerchr2:242485777..242485779hg19UCSC Ensembl
Outerchr2:242483779..242487777hg19UCSC Ensembl
chr2:242133452..242135450hg18UCSC Ensembl
Innerchr2:242134452..242134450hg18UCSC Ensembl
Outerchr2:242132452..242136450hg18UCSC Ensembl
Cytoband2q37.3
Allele length
AssemblyAllele length
hg381999
hg191999
hg181999
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8693568
SamplesNA19240
Known GenesBOK-AS1
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3344058
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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