A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3434393



Internal ID14934661
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:132148854..132150852hg38UCSC Ensembl
Innerchr12:132149852..132149854hg38UCSC Ensembl
Outerchr12:132147854..132151852hg38UCSC Ensembl
chr12:132633399..132635397hg19UCSC Ensembl
Innerchr12:132634397..132634399hg19UCSC Ensembl
Outerchr12:132632399..132636397hg19UCSC Ensembl
chr12:131199352..131201350hg18UCSC Ensembl
Innerchr12:131200352..131200350hg18UCSC Ensembl
Outerchr12:131198352..131202350hg18UCSC Ensembl
Cytoband12q24.33
Allele length
AssemblyAllele length
hg381999
hg191999
hg181999
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv945e59
Supporting Variantsessv8688626
SamplesNA19240
Known GenesNOC4L
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3434393
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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