A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7737500



Internal ID13801624
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:72670725..72670756hg38UCSC Ensembl
Outerchr11:72670525..72670956hg38UCSC Ensembl
Innerchr11:72381769..72381800hg19UCSC Ensembl
Outerchr11:72381569..72382000hg19UCSC Ensembl
Innerchr11:72059417..72059448hg18UCSC Ensembl
Outerchr11:72059217..72059648hg18UCSC Ensembl
Cytoband11q13.4
Allele length
AssemblyAllele length
hg38432
hg19432
hg18432
Variant TypeCNV tandem duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3302942
Supporting Variants
SamplesNA18570
Known GenesPDE2A
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv7737500
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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