A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2723392



Internal ID10307028
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr21:36303546..36304470hg38UCSC Ensembl
Outerchr21:37675844..37676768hg19UCSC Ensembl
Cytoband21q22.12
Allele length
AssemblyAllele length
hg38925
hg19925
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6725739, essv6961353, essv6824868, essv6885917, essv6783821, essv6950434, essv6895763, essv6892229, essv6916152, essv6913895, essv6750538, essv6769430, essv6766479, essv6868640, essv6695266, essv6813100, essv6816098, essv6888935, essv6699523, essv6863840, essv6666802, essv6721891, essv6846900, essv6742077, essv6810285, essv6876008, essv6880366, essv6738748, essv6821074, essv6828907, essv6764124, essv6758992, essv6972187, essv6949418, essv6877613, essv6710505, essv6735937, essv6941672, essv6807307, essv6853092, essv6933194
SamplesSSM059, SSM008, SSM024, SSM075, SSM045, SSM011, SSM064, SSM079, SSM038, SSM097, SSM009, SSM093, SSM050, SSM074, SSM088, SSM002, SSM041, SSM028, SSM092, SSM029, SSM096, SSM062, SSM026, SSM089, SSM003, SSM044, SSM086, SSM085, SSM020, SSM015, SSM078, SSM005, SSM080, SSM076, SSM022, SSM095, SSM052, SSM098, SSM049, SSM056, SSM063
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)esv2723392
Frequency
Sample Size96
Observed Gain0
Observed Loss41
Observed Complex0
Frequencyn/a


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