A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3409576



Internal ID15256536
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:96971749..96971779hg38UCSC Ensembl
Innerchr12:96971758..96971767hg38UCSC Ensembl
Outerchr12:96971728..96971800hg38UCSC Ensembl
chr12:97365527..97365557hg19UCSC Ensembl
Innerchr12:97365536..97365545hg19UCSC Ensembl
Outerchr12:97365506..97365578hg19UCSC Ensembl
chr12:95889658..95889688hg18UCSC Ensembl
Innerchr12:95889676..95889667hg18UCSC Ensembl
Outerchr12:95889637..95889709hg18UCSC Ensembl
Cytoband12q23.1
Allele length
AssemblyAllele length
hg386026
hg196026
hg186026
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8958906, essv8958903, essv8958905, essv8958902, essv8958901
SamplesNA12717, NA12045, NA12750, NA12006, NA07000
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3409576
Frequency
Sample Size185
Observed Gain5
Observed Loss0
Observed Complex0
Frequencyn/a


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