A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2724288



Internal ID10307924
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr22:42702638..42703006hg38UCSC Ensembl
Outerchr22:43098644..43099012hg19UCSC Ensembl
Cytoband22q13.2
Allele length
AssemblyAllele length
hg38369
hg19369
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6780652
SamplesSSM067
Known GenesA4GALT
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)esv2724288
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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