A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2724710



Internal ID10308346
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr22:49856467..49857026hg38UCSC Ensembl
Outerchr22:50250115..50250674hg19UCSC Ensembl
Cytoband22q13.33
Allele length
AssemblyAllele length
hg38560
hg19560
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6668254, essv6874596, essv6666730, essv6733360, essv6682704, essv6780697, essv6972127, essv6967703, essv6961264, essv6921576, essv6868584, essv6821031, essv6917277, essv6853021, essv6742035, essv6909912, essv6696870, essv6858993, essv6747680, essv6718026, essv6898505, essv6758968, essv6905983
SamplesSSM059, SSM027, SSM087, SSM013, SSM028, SSM047, SSM029, SSM026, SSM089, SSM017, SSM067, SSM014, SSM086, SSM033, SSM078, SSM016, SSM037, SSM091, SSM055, SSM004, SSM099, SSM043, SSM052
Known GenesZBED4
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)esv2724710
Frequency
Sample Size96
Observed Gain0
Observed Loss23
Observed Complex0
Frequencyn/a


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