A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2724152



Internal ID10307788
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr22:32585919..32586097hg38UCSC Ensembl
Outerchr22:32981905..32982083hg19UCSC Ensembl
Cytoband22q12.3
Allele length
AssemblyAllele length
hg38179
hg19179
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6937450, essv6674946, essv6729424, essv6824763, essv6682653, essv6933079, essv6913788
SamplesSSM046, SSM079, SSM021, SSM031, SSM033, SSM020, SSM015
Known GenesSYN3
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)esv2724152
Frequency
Sample Size96
Observed Gain0
Observed Loss7
Observed Complex0
Frequencyn/a


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