A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5413544



Internal ID8390947
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:111125617..111128520hg38UCSC Ensembl
chr2:111883194..111886097hg19UCSC Ensembl
Cytoband2q13
Allele length
AssemblyAllele length
hg382904
hg192904
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsesv2667742
Supporting Variants
SamplesNA18571
Known GenesBCL2L11
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)essv5413544
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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