A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2724408



Internal ID10308044
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr22:45587304..45587381hg38UCSC Ensembl
Outerchr22:45983184..45983261hg19UCSC Ensembl
Cytoband22q13.31
Allele length
AssemblyAllele length
hg3878
hg1978
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6868565, essv6674981, essv6961219, essv6858953
SamplesSSM087, SSM026, SSM089, SSM031
Known GenesFBLN1
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)esv2724408
Frequency
Sample Size96
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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