A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3401431



Internal ID14901708
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:124379037..124379037hg38UCSC Ensembl
Innerchr12:124379036..124379038hg38UCSC Ensembl
Outerchr12:124378977..124379087hg38UCSC Ensembl
chr12:124863583..124863583hg19UCSC Ensembl
Innerchr12:124863582..124863584hg19UCSC Ensembl
Outerchr12:124863523..124863633hg19UCSC Ensembl
chr12:123429536..123429536hg18UCSC Ensembl
Innerchr12:123429537..123429535hg18UCSC Ensembl
Outerchr12:123429476..123429586hg18UCSC Ensembl
Cytoband12q24.31
Allele length
AssemblyAllele length
hg3853
hg1953
hg1853
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8813412
SamplesNA12878
Known GenesNCOR2
MethodSequencing
Analysis
Platform454
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3401431
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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