A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7730984



Internal ID14663856
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:159237780..159237864hg38UCSC Ensembl
Innerchr2:159237821..159237822hg38UCSC Ensembl
Outerchr2:159237680..159237964hg38UCSC Ensembl
chr2:160094291..160094375hg19UCSC Ensembl
Innerchr2:160094332..160094333hg19UCSC Ensembl
Outerchr2:160094191..160094475hg19UCSC Ensembl
chr2:159802537..159802621hg18UCSC Ensembl
Innerchr2:159802579..159802578hg18UCSC Ensembl
Outerchr2:159802437..159802721hg18UCSC Ensembl
Cytoband2q24.2
Allele length
AssemblyAllele length
hg3885
hg1985
hg1885
Variant TypeCNV tandem duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3302501
Supporting Variants
SamplesNA19238
Known GenesWDSUB1
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv7730984
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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