A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6793057



Internal ID9848269
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr22:25257971..25506751hg38UCSC Ensembl
Outerchr22:25653938..25902718hg19UCSC Ensembl
Cytoband22q11.23
Allele length
AssemblyAllele length
hg38248781
hg19248781
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2724085, esv2724081
Supporting Variants
SamplesSSM070
Known GenesCRYBB2P1, IGLL3P, LRP5L, 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)essv6793057
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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