A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3426789



Internal ID15273746
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:126539219..126541017hg38UCSC Ensembl
Innerchr3:126540017..126540219hg38UCSC Ensembl
Outerchr3:126538219..126542017hg38UCSC Ensembl
chr3:126258062..126259860hg19UCSC Ensembl
Innerchr3:126258860..126259062hg19UCSC Ensembl
Outerchr3:126257062..126260860hg19UCSC Ensembl
chr3:127740752..127742550hg18UCSC Ensembl
Innerchr3:127741752..127741550hg18UCSC Ensembl
Outerchr3:127739752..127743550hg18UCSC Ensembl
Cytoband3q21.3
Allele length
AssemblyAllele length
hg381799
hg191799
hg181799
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8693822
SamplesNA19240
Known GenesCHST13
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3426789
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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