A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2724532



Internal ID10308168
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr22:48337160..48337574hg38UCSC Ensembl
Outerchr22:48732972..48733386hg19UCSC Ensembl
Cytoband22q13.32
Allele length
AssemblyAllele length
hg38415
hg19415
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6950365, essv6773286, essv6788961, essv6784795, essv6675006, essv6925535, essv6961237, essv6807257, essv6901491, essv6946305, essv6793115, essv6729458
SamplesSSM100, SSM024, SSM046, SSM065, SSM074, SSM023, SSM018, SSM069, SSM026, SSM031, SSM068, SSM070
Known Genes
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)esv2724532
Frequency
Sample Size96
Observed Gain0
Observed Loss12
Observed Complex0
Frequencyn/a


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