A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7735373



Internal ID13443773
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:159237837..159237838hg38UCSC Ensembl
Outerchr2:159237700..159237976hg38UCSC Ensembl
Innerchr2:160094348..160094349hg19UCSC Ensembl
Outerchr2:160094211..160094487hg19UCSC Ensembl
Innerchr2:159802595..159802594hg18UCSC Ensembl
Outerchr2:159802457..159802733hg18UCSC Ensembl
Cytoband2q24.2
Allele length
AssemblyAllele length
hg38277
hg19277
hg18277
Variant TypeCNV tandem duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3302966
Supporting Variants
SamplesNA18502
Known GenesWDSUB1
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv7735373
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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