A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3394996



Internal ID14895274
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:62274434..62274434hg38UCSC Ensembl
Innerchr12:62274433..62274435hg38UCSC Ensembl
Outerchr12:62274384..62274484hg38UCSC Ensembl
chr12:62668215..62668215hg19UCSC Ensembl
Innerchr12:62668214..62668216hg19UCSC Ensembl
Outerchr12:62668165..62668265hg19UCSC Ensembl
chr12:60954482..60954482hg18UCSC Ensembl
Innerchr12:60954483..60954481hg18UCSC Ensembl
Outerchr12:60954432..60954532hg18UCSC Ensembl
Cytoband12q14.1
Allele length
AssemblyAllele length
hg381775
hg191775
hg181775
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8653087, essv8653089, essv8653088
SamplesNA19238, NA19239, NA19240
Known GenesUSP15
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3394996
Frequency
Sample Size185
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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