A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8693822



Internal ID15076636
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 StatusS
Merged Variantsesv3426789
Supporting Variants
SamplesNA19240
Known GenesCHST13
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8693822
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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