A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8909801



Internal ID13408758
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 StatusS
Merged Variantsesv3388759
Supporting Variants
SamplesNA18498
Known GenesPDE11A
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8909801
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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