A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2724153



Internal ID10307789
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr22:32604102..32604652hg38UCSC Ensembl
Outerchr22:33000088..33000638hg19UCSC Ensembl
Cytoband22q12.3
Allele length
AssemblyAllele length
hg38551
hg19551
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6733303, essv6950319, essv6686002, essv6933080, essv6839778, essv6780635, essv6696811, essv6874566, essv6703648, essv6954479, essv6895674, essv6773243, essv6793068, essv6875252, essv6888867, essv6810216, essv6921508, essv6948629, essv6816414, essv6747120, essv6842642, essv6909877, essv6797240, essv6925494, essv6902342, essv6843685, essv6699468
SamplesSSM083, SSM071, SSM024, SSM075, SSM011, SSM065, SSM038, SSM039, SSM084, SSM047, SSM018, SSM096, SSM017, SSM003, SSM067, SSM014, SSM020, SSM007, SSM037, SSM077, SSM010, SSM091, SSM070, SSM025, SSM034, SSM098, SSM012
Known GenesSYN3
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)esv2724153
Frequency
Sample Size96
Observed Gain0
Observed Loss27
Observed Complex0
Frequencyn/a


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