A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2672909



Internal ID9592328
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:47343943..47344904hg38UCSC Ensembl
Outerchr11:47343906..47344954hg38UCSC Ensembl
Innerchr11:47365494..47366455hg19UCSC Ensembl
Outerchr11:47365457..47366505hg19UCSC Ensembl
Cytoband11p11.2
Allele length
AssemblyAllele length
hg381049
hg191049
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6200703
SamplesNA19681
Known GenesMYBPC3
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2672909
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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