A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7732435



Internal ID14158227
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:158548596..158548597hg38UCSC Ensembl
Outerchr2:158548435..158548758hg38UCSC Ensembl
Innerchr2:159405108..159405109hg19UCSC Ensembl
Outerchr2:159404947..159405270hg19UCSC Ensembl
Innerchr2:159113355..159113354hg18UCSC Ensembl
Outerchr2:159113193..159113516hg18UCSC Ensembl
Cytoband2q24.1
Allele length
AssemblyAllele length
hg38324
hg19324
hg18324
Variant TypeCNV tandem duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3302752
Supporting Variants
SamplesNA18571
Known GenesPKP4
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv7732435
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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