A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2724086



Internal ID9958387
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr22:25348730..25349345hg38UCSC Ensembl
Outerchr22:25744697..25745312hg19UCSC Ensembl
Cytoband22q11.23
Allele length
AssemblyAllele length
hg38616
hg19616
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6877535, essv6902332, essv6780627, essv6835973, essv6921500, essv6925482, essv6733293, essv6784751, essv6668793, essv6972047, essv6773232, essv6741984, essv6807226, essv6913778, essv6782787, essv6858901, essv6725627, essv6696800, essv6797237, essv6793061, essv6714046, essv6769343, essv6961169, essv6801429, essv6747647, essv6905932, essv6788918
SamplesSSM008, SSM071, SSM045, SSM064, SSM065, SSM087, SSM013, SSM074, SSM042, SSM028, SSM092, SSM047, SSM018, SSM069, SSM026, SSM017, SSM067, SSM068, SSM072, SSM082, SSM015, SSM037, SSM055, SSM070, SSM052, SSM030, SSM012
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)esv2724086
Frequency
Sample Size96
Observed Gain0
Observed Loss27
Observed Complex0
Frequencyn/a


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