A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3329687



Internal ID15176673
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:117792764..117794962hg38UCSC Ensembl
Innerchr12:117793764..117793962hg38UCSC Ensembl
Outerchr12:117791764..117795962hg38UCSC Ensembl
chr12:118230569..118232767hg19UCSC Ensembl
Innerchr12:118231569..118231767hg19UCSC Ensembl
Outerchr12:118229569..118233767hg19UCSC Ensembl
chr12:116714952..116717150hg18UCSC Ensembl
Innerchr12:116715952..116716150hg18UCSC Ensembl
Outerchr12:116713952..116718150hg18UCSC Ensembl
Cytoband12q24.23
Allele length
AssemblyAllele length
hg382199
hg192199
hg182199
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv923e59
Supporting Variantsessv8688567
SamplesNA19238
Known GenesKSR2
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3329687
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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