A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2724049



Internal ID9958350
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr22:23448550..23448932hg38UCSC Ensembl
Outerchr22:23790737..23791119hg19UCSC Ensembl
Cytoband22q11.23
Allele length
AssemblyAllele length
hg38383
hg19383
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6828810, essv6685991, essv6972042, essv6946248, essv6839764
SamplesSSM083, SSM023, SSM028, SSM080, SSM034
Known Genes
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)esv2724049
Frequency
Sample Size96
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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