A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2724242



Internal ID9958543
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr22:39025582..39045578hg38UCSC Ensembl
Outerchr22:39421587..39441583hg19UCSC Ensembl
Cytoband22q13.1
Allele length
AssemblyAllele length
hg3819997
hg1919997
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6933088, essv6961194, essv6815599
SamplesSSM020, SSM009, SSM026
Known GenesAPOBEC3D, APOBEC3F
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)esv2724242
Frequency
Sample Size96
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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