A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3324510



Internal ID14824791
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:104575444..104576967hg38UCSC Ensembl
Innerchr12:104575483..104576928hg38UCSC Ensembl
Outerchr12:104575405..104577006hg38UCSC Ensembl
chr12:104969222..104970745hg19UCSC Ensembl
Innerchr12:104969261..104970706hg19UCSC Ensembl
Outerchr12:104969183..104970784hg19UCSC Ensembl
chr12:103493352..103494875hg18UCSC Ensembl
Innerchr12:103493391..103494836hg18UCSC Ensembl
Outerchr12:103493313..103494914hg18UCSC Ensembl
Cytoband12q23.3
Allele length
AssemblyAllele length
hg381524
hg191524
hg181524
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8670538, essv8670537
SamplesNA12891, NA19240
Known GenesCHST11
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3324510
Frequency
Sample Size185
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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