A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3386246



Internal ID15233215
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:108131845..108133643hg38UCSC Ensembl
Innerchr12:108132643..108132845hg38UCSC Ensembl
Outerchr12:108130845..108134643hg38UCSC Ensembl
chr12:108525622..108527420hg19UCSC Ensembl
Innerchr12:108526420..108526622hg19UCSC Ensembl
Outerchr12:108524622..108528420hg19UCSC Ensembl
chr12:107049752..107051550hg18UCSC Ensembl
Innerchr12:107050752..107050550hg18UCSC Ensembl
Outerchr12:107048752..107052550hg18UCSC Ensembl
Cytoband12q23.3
Allele length
AssemblyAllele length
hg381799
hg191799
hg181799
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8688544
SamplesNA19238
Known GenesWSCD2
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3386246
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer