A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2665896



Internal ID9585315
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:17642077..17643673hg38UCSC Ensembl
chr22:18124843..18126439hg19UCSC Ensembl
Cytoband22q11.21
Allele length
AssemblyAllele length
hg381597
hg191597
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5759284
SamplesHG01070
Known GenesBCL2L13
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2665896
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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