A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3335300



Internal ID15182290
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:107193988..107194003hg18UCSC Ensembl
Innerchr12:107193990..107194001hg18UCSC Ensembl
Outerchr12:107193986..107194005hg18UCSC Ensembl
Cytoband12q23.3
Allele length
AssemblyAllele length
hg38n/a
hg1950
hg1850
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7865625
SamplesNA12005
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3335300
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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