A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5574627



Internal ID9510468
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:48069202..48076970hg38UCSC Ensembl
chr11:48090754..48098522hg19UCSC Ensembl
Cytoband11p11.2
Allele length
AssemblyAllele length
hg387769
hg197769
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsesv2657950
Supporting Variants
SamplesNA18989
Known GenesPTPRJ
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)essv5574627
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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