A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8674568



Internal ID15074644
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:177678970..177679034hg38UCSC Ensembl
Innerchr2:177678995..177679007hg38UCSC Ensembl
Outerchr2:177678931..177679071hg38UCSC Ensembl
chr2:178543698..178543762hg19UCSC Ensembl
Innerchr2:178543723..178543735hg19UCSC Ensembl
Outerchr2:178543659..178543799hg19UCSC Ensembl
chr2:178251944..178252008hg18UCSC Ensembl
Innerchr2:178251981..178251969hg18UCSC Ensembl
Outerchr2:178251905..178252045hg18UCSC Ensembl
Cytoband2q31.2
Allele length
AssemblyAllele length
hg38276
hg19276
hg18276
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3358668
Supporting Variants
SamplesNA19240
Known GenesPDE11A
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8674568
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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