A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3302501



Internal ID15149448
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:159237779..159237864hg38UCSC Ensembl
Innerchr2:159237821..159237821hg38UCSC Ensembl
Outerchr2:159237679..159237964hg38UCSC Ensembl
chr2:160094290..160094375hg19UCSC Ensembl
Innerchr2:160094332..160094332hg19UCSC Ensembl
Outerchr2:160094190..160094475hg19UCSC Ensembl
chr2:159802536..159802621hg18UCSC Ensembl
Innerchr2:159802578..159802578hg18UCSC Ensembl
Outerchr2:159802436..159802721hg18UCSC Ensembl
Cytoband2q24.2
Allele length
AssemblyAllele length
hg3886
hg1986
hg1886
Variant TypeCNV tandem duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2286e59
Supporting Variantsessv7731498, essv7730984
SamplesNA19238, NA12878
Known GenesWDSUB1
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3302501
Frequency
Sample Size185
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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