A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3305152



Internal ID14805414
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:72670144..72670145hg38UCSC Ensembl
Innerchr11:72670057..72670232hg38UCSC Ensembl
Outerchr11:72670056..72670233hg38UCSC Ensembl
chr11:72381188..72381189hg19UCSC Ensembl
Innerchr11:72381101..72381276hg19UCSC Ensembl
Outerchr11:72381100..72381277hg19UCSC Ensembl
chr11:72058836..72058837hg18UCSC Ensembl
Innerchr11:72058924..72058749hg18UCSC Ensembl
Outerchr11:72058748..72058925hg18UCSC Ensembl
Cytoband11q13.4
Allele length
AssemblyAllele length
hg38232
hg19232
hg18232
Variant TypeCNV mobile element insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7759258, essv7744466, essv7760197, essv7755490
SamplesNA18501, NA19108, NA18508, NA18498
Known GenesPDE2A
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3305152
Frequency
Sample Size185
Observed Gain4
Observed Loss0
Observed Complex0
Frequencyn/a


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