A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7738792



Internal ID13142308
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:113091539..113091540hg38UCSC Ensembl
Outerchr12:113091357..113091722hg38UCSC Ensembl
Innerchr12:113529344..113529345hg19UCSC Ensembl
Outerchr12:113529162..113529527hg19UCSC Ensembl
Innerchr12:112013728..112013727hg18UCSC Ensembl
Outerchr12:112013545..112013910hg18UCSC Ensembl
Cytoband12q24.13
Allele length
AssemblyAllele length
hg38366
hg19366
hg18366
Variant TypeCNV tandem duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3303061
Supporting Variants
SamplesNA12717
Known GenesDTX1
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv7738792
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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