A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8813412



Internal ID13289135
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 Flag1
Merged StatusS
Merged Variantsesv3401431
Supporting Variants
SamplesNA12878
Known GenesNCOR2
MethodSequencing
Analysis
Platform454
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8813412
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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