A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2724407



Internal ID10308043
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr22:45586945..45587654hg38UCSC Ensembl
Outerchr22:45982825..45983534hg19UCSC Ensembl
Cytoband22q13.31
Allele length
AssemblyAllele length
hg38710
hg19710
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6766444, essv6937476, essv6877568, essv6742012, essv6902365, essv6718020, essv6821015, essv6868565, essv6674981, essv6753401, essv6744833, essv6842842, essv6666679, essv6758956, essv6961219, essv6738712, essv6885859, essv6915708, essv6735902, essv6780666, essv6858953, essv6756434, essv6761755, essv6750493
SamplesSSM059, SSM087, SSM050, SSM002, SSM057, SSM058, SSM092, SSM021, SSM061, SSM029, SSM026, SSM089, SSM031, SSM067, SSM006, SSM078, SSM053, SSM010, SSM095, SSM052, SSM049, SSM056, SSM063, SSM012
Known GenesFBLN1
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)esv2724407
Frequency
Sample Size96
Observed Gain0
Observed Loss24
Observed Complex0
Frequencyn/a


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