A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3425686



Internal ID15272643
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:25840644..25840655hg38UCSC Ensembl
Innerchr12:25840623..25840676hg38UCSC Ensembl
Outerchr12:25840612..25840687hg38UCSC Ensembl
chr12:25993578..25993589hg19UCSC Ensembl
Innerchr12:25993557..25993610hg19UCSC Ensembl
Outerchr12:25993546..25993621hg19UCSC Ensembl
chr12:25884845..25884856hg18UCSC Ensembl
Innerchr12:25884877..25884824hg18UCSC Ensembl
Outerchr12:25884813..25884888hg18UCSC Ensembl
Cytoband12p12.1
Allele length
AssemblyAllele length
hg3850
hg1950
hg1850
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7865556
SamplesNA12005
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3425686
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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