A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2724257



Internal ID10307893
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr22:39596300..39596551hg38UCSC Ensembl
Outerchr22:39992305..39992556hg19UCSC Ensembl
Cytoband22q13.1
Allele length
AssemblyAllele length
hg38252
hg19252
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6801442, essv6686012, essv6784767, essv6928899
SamplesSSM019, SSM068, SSM072, SSM034
Known GenesCACNA1I
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)esv2724257
Frequency
Sample Size96
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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