A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3302752



Internal ID15149700
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:158548534..158548658hg38UCSC Ensembl
Innerchr2:158548596..158548596hg38UCSC Ensembl
Outerchr2:158548434..158548758hg38UCSC Ensembl
chr2:159405046..159405170hg19UCSC Ensembl
Innerchr2:159405108..159405108hg19UCSC Ensembl
Outerchr2:159404946..159405270hg19UCSC Ensembl
chr2:159113292..159113416hg18UCSC Ensembl
Innerchr2:159113354..159113354hg18UCSC Ensembl
Outerchr2:159113192..159113516hg18UCSC Ensembl
Cytoband2q24.1
Allele length
AssemblyAllele length
hg38125
hg19125
hg18125
Variant TypeCNV tandem duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7732080, essv7736411, essv7732242, essv7732435
SamplesNA07357, NA18942, NA18571, NA10847
Known GenesPKP4
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3302752
Frequency
Sample Size185
Observed Gain4
Observed Loss0
Observed Complex0
Frequencyn/a


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