A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2724404



Internal ID10308040
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr22:45568139..45569050hg38UCSC Ensembl
Outerchr22:45964019..45964930hg19UCSC Ensembl
Cytoband22q13.31
Allele length
AssemblyAllele length
hg38912
hg19912
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6941582, essv6858952, essv6694909, essv6828842, essv6868563, essv6721825, essv6852980, essv6821014, essv6674980, essv6871604, essv6961218, essv6892187, essv6689139, essv6678983, essv6686023, essv6828844, essv6710445, essv6750492, essv6703674, essv6703675, essv6946293, essv6714078, essv6793100, essv6875409, essv6967664, essv6933109, essv6863765, essv6735901, essv6714079, essv6756433, essv6925520
SamplesSSM027, SSM011, SSM087, SSM097, SSM039, SSM042, SSM088, SSM041, SSM023, SSM058, SSM090, SSM018, SSM026, SSM089, SSM035, SSM032, SSM031, SSM044, SSM086, SSM020, SSM078, SSM005, SSM080, SSM022, SSM070, SSM034, SSM049, SSM056
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)esv2724404
Frequency
Sample Size96
Observed Gain0
Observed Loss28
Observed Complex0
Frequencyn/a


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