A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3423223



Internal ID14923494
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:26851367..26851576hg38UCSC Ensembl
Innerchr2:26851427..26851514hg38UCSC Ensembl
Outerchr2:26851305..26851636hg38UCSC Ensembl
chr2:27074235..27074444hg19UCSC Ensembl
Innerchr2:27074295..27074382hg19UCSC Ensembl
Outerchr2:27074173..27074504hg19UCSC Ensembl
chr2:26927739..26927948hg18UCSC Ensembl
Innerchr2:26927799..26927886hg18UCSC Ensembl
Outerchr2:26927677..26928008hg18UCSC Ensembl
Cytoband2p23.3
Allele length
AssemblyAllele length
hg38210
hg19210
hg18210
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8671049, essv8671048, essv8671050
SamplesNA19239, NA19238, NA19240
Known GenesDPYSL5
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3423223
Frequency
Sample Size185
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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