A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2673072



Internal ID9592491
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:44737979..44739037hg38UCSC Ensembl
chr22:45133859..45134917hg19UCSC Ensembl
Cytoband22q13.31
Allele length
AssemblyAllele length
hg381059
hg191059
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6140782
SamplesNA18948
Known GenesPRR5-ARHGAP8
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2673072
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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