A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3440512



Internal ID15287465
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:6022250..6022322hg38UCSC Ensembl
Innerchr2:6022264..6022308hg38UCSC Ensembl
Outerchr2:6022236..6022336hg38UCSC Ensembl
chr2:6162382..6162454hg19UCSC Ensembl
Innerchr2:6162396..6162440hg19UCSC Ensembl
Outerchr2:6162368..6162468hg19UCSC Ensembl
chr2:6079833..6079905hg18UCSC Ensembl
Innerchr2:6079847..6079891hg18UCSC Ensembl
Outerchr2:6079819..6079919hg18UCSC Ensembl
Cytoband2p25.2
Allele length
AssemblyAllele length
hg3873
hg1973
hg1873
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8671065, essv8671064
SamplesNA19239, NA19240
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3440512
Frequency
Sample Size185
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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