A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2671885



Internal ID9937990
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:41666296..41666784hg38UCSC Ensembl
chr22:42062300..42062788hg19UCSC Ensembl
Cytoband22q13.2
Allele length
AssemblyAllele length
hg38489
hg19489
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6434252, essv6525586, essv6201883, essv6447191, essv5524375
SamplesNA19379, NA20287, NA19372, NA18517, NA19439
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2671885
Frequency
Sample Size1151
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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