A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3389925



Internal ID15236892
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:145654665..145654987hg38UCSC Ensembl
Innerchr2:145654664..145654988hg38UCSC Ensembl
Outerchr2:145654555..145655107hg38UCSC Ensembl
chr2:146412233..146412555hg19UCSC Ensembl
Innerchr2:146412232..146412556hg19UCSC Ensembl
Outerchr2:146412123..146412675hg19UCSC Ensembl
chr2:146128703..146129025hg18UCSC Ensembl
Innerchr2:146129026..146128702hg18UCSC Ensembl
Outerchr2:146128593..146129145hg18UCSC Ensembl
Cytoband2q22.3
Allele length
AssemblyAllele length
hg38323
hg19323
hg18323
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8809069
SamplesNA12878
Known Genes
MethodSequencing
Analysis
Platform454
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3389925
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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