A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6471700



Internal ID9449103
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:44739371..44741650hg38UCSC Ensembl
chr22:45135251..45137530hg19UCSC Ensembl
Cytoband22q13.31
Allele length
AssemblyAllele length
hg382280
hg192280
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsesv2666968
Supporting Variants
SamplesNA19076
Known GenesPRR5-ARHGAP8
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)essv6471700
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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