A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8688640



Internal ID15083632
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:132535593..132537091hg38UCSC Ensembl
Innerchr12:132536091..132536593hg38UCSC Ensembl
Outerchr12:132534593..132538091hg38UCSC Ensembl
chr12:133112179..133113677hg19UCSC Ensembl
Innerchr12:133112677..133113179hg19UCSC Ensembl
Outerchr12:133111179..133114677hg19UCSC Ensembl
chr12:131622252..131623750hg18UCSC Ensembl
Innerchr12:131623252..131622750hg18UCSC Ensembl
Outerchr12:131621252..131624750hg18UCSC Ensembl
Cytoband12q24.33
Allele length
AssemblyAllele length
hg381499
hg191499
hg181499
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3433969
Supporting Variants
SamplesNA19240
Known GenesFBRSL1
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8688640
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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