A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6192433



Internal ID9169836
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:44717343..44718346hg38UCSC Ensembl
chr22:45113223..45114226hg19UCSC Ensembl
Cytoband22q13.31
Allele length
AssemblyAllele length
hg381004
hg191004
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsesv2670519
Supporting Variants
SamplesNA20516
Known GenesPRR5, PRR5-ARHGAP8
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)essv6192433
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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