A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3309897



Internal ID14810162
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:72609867..72609868hg38UCSC Ensembl
Innerchr11:72609850..72609885hg38UCSC Ensembl
Outerchr11:72609849..72609886hg38UCSC Ensembl
chr11:72320911..72320912hg19UCSC Ensembl
Innerchr11:72320894..72320929hg19UCSC Ensembl
Outerchr11:72320893..72320930hg19UCSC Ensembl
chr11:71998559..71998560hg18UCSC Ensembl
Innerchr11:71998577..71998542hg18UCSC Ensembl
Outerchr11:71998541..71998578hg18UCSC Ensembl
Cytoband11q13.4
Allele length
AssemblyAllele length
hg38292
hg19292
hg18292
Variant TypeCNV mobile element insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7840957, essv7840452
SamplesNA12891, NA12878
Known GenesPDE2A
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3309897
Frequency
Sample Size185
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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