A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8688648



Internal ID15083738
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:133142393..133167091hg38UCSC Ensembl
Innerchr12:133143393..133166091hg38UCSC Ensembl
Outerchr12:133141393..133168091hg38UCSC Ensembl
chr12:133718979..133743677hg19UCSC Ensembl
Innerchr12:133719979..133742677hg19UCSC Ensembl
Outerchr12:133717979..133744677hg19UCSC Ensembl
chr12:132229052..132253750hg18UCSC Ensembl
Innerchr12:132230052..132252750hg18UCSC Ensembl
Outerchr12:132228052..132254750hg18UCSC Ensembl
Cytoband12q24.33
Allele length
AssemblyAllele length
hg3824699
hg1924699
hg1824699
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsesv3368659
Supporting Variants
SamplesNA19240
Known GenesZNF10
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8688648
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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