A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2724446



Internal ID10308082
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr22:46631470..46631707hg38UCSC Ensembl
Outerchr22:47027367..47027604hg19UCSC Ensembl
Cytoband22q13.31
Allele length
AssemblyAllele length
hg38238
hg19238
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6909899, essv6868569
SamplesSSM089, SSM014
Known GenesGRAMD4
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)esv2724446
Frequency
Sample Size96
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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