A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2723457



Internal ID10307093
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr21:40214927..40215255hg38UCSC Ensembl
Outerchr21:41586854..41587182hg19UCSC Ensembl
Cytoband21q22.2
Allele length
AssemblyAllele length
hg38329
hg19329
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6967792, essv6801537, essv6828912, essv6797343, essv6824874, essv6832484, essv6888938, essv6909967, essv6696923, essv6821082, essv6868646, essv6703756, essv6863844, essv6859070, essv6871650, essv6933198, essv6807311, essv6783887, essv6874638, essv6780751, essv6675095, essv6699524, essv6876064, essv6784878, essv6961366, essv6721895, essv6689191, essv6679059, essv6686086, essv6666812, essv6892233, essv6725744, essv6846902, essv6853099, essv6901541, essv6880369, essv6810289
SamplesSSM100, SSM008, SSM071, SSM027, SSM075, SSM045, SSM011, SSM079, SSM087, SSM038, SSM097, SSM039, SSM093, SSM074, SSM088, SSM090, SSM029, SSM096, SSM026, SSM089, SSM035, SSM032, SSM031, SSM067, SSM044, SSM014, SSM086, SSM085, SSM068, SSM081, SSM072, SSM020, SSM078, SSM080, SSM037, SSM091, SSM034
Known GenesDSCAM
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)esv2723457
Frequency
Sample Size96
Observed Gain0
Observed Loss37
Observed Complex0
Frequencyn/a


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