A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3302942



Internal ID14803204
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:72670624..72670856hg38UCSC Ensembl
Innerchr11:72670724..72670756hg38UCSC Ensembl
Outerchr11:72670524..72670956hg38UCSC Ensembl
chr11:72381668..72381900hg19UCSC Ensembl
Innerchr11:72381768..72381800hg19UCSC Ensembl
Outerchr11:72381568..72382000hg19UCSC Ensembl
chr11:72059316..72059548hg18UCSC Ensembl
Innerchr11:72059416..72059448hg18UCSC Ensembl
Outerchr11:72059216..72059648hg18UCSC Ensembl
Cytoband11q13.4
Allele length
AssemblyAllele length
hg38233
hg19233
hg18233
Variant TypeCNV tandem duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7734192, essv7737589, essv7732234, essv7736202, essv7736381, essv7738374, essv7737972, essv7737500, essv7735465
SamplesNA18526, NA18940, NA18942, NA18964, NA10847, NA18956, NA18555, NA18570, NA18552
Known GenesPDE2A
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3302942
Frequency
Sample Size185
Observed Gain9
Observed Loss0
Observed Complex0
Frequencyn/a


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