A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2724243



Internal ID10307879
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr22:39025861..39081892hg38UCSC Ensembl
Outerchr22:39421866..39477897hg19UCSC Ensembl
Cytoband22q13.1
Allele length
AssemblyAllele length
hg3856032
hg1956032
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6764089, essv6933088, essv6791376, essv6780646
SamplesSSM062, SSM067, SSM001, SSM020
Known GenesAPOBEC3D, APOBEC3F, APOBEC3G
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)esv2724243
Frequency
Sample Size96
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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