A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8688539



Internal ID15012677
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:106896544..106896842hg38UCSC Ensembl
Innerchr12:106896543..106896843hg38UCSC Ensembl
Outerchr12:106895544..106897842hg38UCSC Ensembl
chr12:107290322..107290620hg19UCSC Ensembl
Innerchr12:107290321..107290621hg19UCSC Ensembl
Outerchr12:107289322..107291620hg19UCSC Ensembl
chr12:105814452..105814750hg18UCSC Ensembl
Innerchr12:105814751..105814451hg18UCSC Ensembl
Outerchr12:105813452..105815750hg18UCSC Ensembl
Cytoband12q23.3
Allele length
AssemblyAllele length
hg38299
hg19299
hg18299
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3448726
Supporting Variants
SamplesNA19238
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8688539
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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