A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3404287



Internal ID14904563
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:1980673..1980685hg38UCSC Ensembl
Innerchr12:1980664..1980694hg38UCSC Ensembl
Outerchr12:1980652..1980706hg38UCSC Ensembl
chr12:2089839..2089851hg19UCSC Ensembl
Innerchr12:2089830..2089860hg19UCSC Ensembl
Outerchr12:2089818..2089872hg19UCSC Ensembl
chr12:1960100..1960112hg18UCSC Ensembl
Innerchr12:1960121..1960091hg18UCSC Ensembl
Outerchr12:1960079..1960133hg18UCSC Ensembl
Cytoband12p13.33
Allele length
AssemblyAllele length
hg38289
hg19289
hg18289
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8672283, essv8672281, essv8672284, essv8672280, essv8672282
SamplesNA12892, NA19238, NA12891, NA12878, NA19240
Known GenesDCP1B
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3404287
Frequency
Sample Size185
Observed Gain5
Observed Loss0
Observed Complex0
Frequencyn/a


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