A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3304300



Internal ID14804562
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:72609864..72609865hg38UCSC Ensembl
Innerchr11:72609842..72609887hg38UCSC Ensembl
Outerchr11:72609841..72609888hg38UCSC Ensembl
chr11:72320908..72320909hg19UCSC Ensembl
Innerchr11:72320886..72320931hg19UCSC Ensembl
Outerchr11:72320885..72320932hg19UCSC Ensembl
chr11:71998556..71998557hg18UCSC Ensembl
Innerchr11:71998579..71998534hg18UCSC Ensembl
Outerchr11:71998533..71998580hg18UCSC 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 Variantsessv7767246, essv7767935, essv7766310, essv7768544, essv7763481
SamplesNA07347, NA11931, NA12872, NA12891, NA12878
Known GenesPDE2A
MethodSequencing
Analysis
PlatformRoche 454
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3304300
Frequency
Sample Size185
Observed Gain5
Observed Loss0
Observed Complex0
Frequencyn/a


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