A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2724233



Internal ID9958534
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr22:38833987..38834334hg38UCSC Ensembl
Outerchr22:39229992..39230339hg19UCSC Ensembl
Cytoband22q13.1
Allele length
AssemblyAllele length
hg38348
hg19348
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6967637, essv6769360, essv6674958, essv6925508, essv6913798, essv6729434
SamplesSSM027, SSM064, SSM031, SSM046, SSM015, SSM018
Known GenesNPTXR
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)esv2724233
Frequency
Sample Size96
Observed Gain0
Observed Loss6
Observed Complex0
Frequencyn/a


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