A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2724366



Internal ID9958667
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr22:44732736..44732886hg38UCSC Ensembl
Outerchr22:45128616..45128766hg19UCSC Ensembl
Cytoband22q13.31
Allele length
AssemblyAllele length
hg38151
hg19151
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6678982, essv6954509
SamplesSSM025, SSM032
Known GenesPRR5, PRR5-ARHGAP8
MethodSequencing
AnalysisBreakdancer:4 times standard deviation,VariationHunter:4 times standard deviation and at least 3 supportting reads
PlatformIllumina HiSeq 2000
Comments
ReferenceWong_et_al_2012b
Pubmed ID23290073
Accession Number(s)esv2724366
Frequency
Sample Size96
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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