A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3335300



Internal ID15182290
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:108276081..108276096hg38UCSC Ensembl
Innerchr12:108276083..108276094hg38UCSC Ensembl
Outerchr12:108276079..108276098hg38UCSC Ensembl
chr12:108669858..108669873hg19UCSC Ensembl
Innerchr12:108669860..108669871hg19UCSC Ensembl
Outerchr12:108669856..108669875hg19UCSC Ensembl
chr12:107193988..107194003hg18UCSC Ensembl
Innerchr12:107193990..107194001hg18UCSC Ensembl
Outerchr12:107193986..107194005hg18UCSC Ensembl
Cytoband12q23.3
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 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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