A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2672812



Internal ID9592231
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:44708769..44709654hg38UCSC Ensembl
chr22:45104649..45105534hg19UCSC Ensembl
Cytoband22q13.31
Allele length
AssemblyAllele length
hg38886
hg19886
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6466298
SamplesNA19788
Known GenesPRR5, PRR5-ARHGAP8
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2672812
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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