A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6877548



Internal ID9926588
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr22:38962040..38992064hg38UCSC Ensembl
Outerchr22:39358045..39388069hg19UCSC Ensembl
Cytoband22q13.1
Allele length
AssemblyAllele length
hg3830025
hg1930025
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2724238
Supporting Variants
SamplesSSM092
Known GenesAPOBEC3A, APOBEC3A_B, APOBEC3B, APOBEC3B-AS1
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)essv6877548
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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