A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3388759



Internal ID14889040
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:178093362..178093406hg38UCSC Ensembl
Innerchr2:178093371..178093394hg38UCSC Ensembl
Outerchr2:178093327..178093438hg38UCSC Ensembl
chr2:178958089..178958133hg19UCSC Ensembl
Innerchr2:178958098..178958121hg19UCSC Ensembl
Outerchr2:178958054..178958165hg19UCSC Ensembl
chr2:178666335..178666379hg18UCSC Ensembl
Innerchr2:178666367..178666344hg18UCSC Ensembl
Outerchr2:178666300..178666411hg18UCSC Ensembl
Cytoband2q31.2
Allele length
AssemblyAllele length
hg381181
hg191181
hg181181
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8909802, essv8909801, essv8909804, essv8909800
SamplesNA18508, NA18489, NA18916, NA18498
Known GenesPDE11A
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3388759
Frequency
Sample Size185
Observed Gain4
Observed Loss0
Observed Complex0
Frequencyn/a


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