A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2724087



Internal ID9958388
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr22:25415702..25576405hg38UCSC Ensembl
Outerchr22:25811669..25972372hg19UCSC Ensembl
Cytoband22q11.23
Allele length
AssemblyAllele length
hg38160704
hg19160704
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6807227, essv6871572, essv6747087, essv6883134
SamplesSSM074, SSM090, SSM094, SSM007
Known GenesADRBK2, CRYBB2P1, MIR6817
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)esv2724087
Frequency
Sample Size96
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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