A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3392384



Internal ID14892663
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:130397098..130397117hg38UCSC Ensembl
Innerchr12:130397094..130397121hg38UCSC Ensembl
Outerchr12:130397075..130397140hg38UCSC Ensembl
chr12:130881643..130881662hg19UCSC Ensembl
Innerchr12:130881639..130881666hg19UCSC Ensembl
Outerchr12:130881620..130881685hg19UCSC Ensembl
chr12:129447596..129447615hg18UCSC Ensembl
Innerchr12:129447619..129447592hg18UCSC Ensembl
Outerchr12:129447573..129447638hg18UCSC Ensembl
Cytoband12q24.33
Allele length
AssemblyAllele length
hg386000
hg196000
hg186000
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9660025
SamplesNA12812
Known GenesRIMBP2
MethodSequencing
Analysis
Platform454
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3392384
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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