A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2723053



Internal ID10306689
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr21:9097011..9099396hg38UCSC Ensembl
Outerchr21:9935844..9938229hg19UCSC Ensembl
Cytoband21p11.2
Allele length
AssemblyAllele length
hg382386
hg192386
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6898511, essv6710477, essv6895726, essv6901504, essv6853036, essv6874605, essv6905994, essv6839834, essv6880333, essv6679008, essv6871619, essv6801493, essv6885887, essv6788990, essv6747464, essv6733370, essv6915896, essv6696881, essv6836029, essv6941625, essv6682720, essv6692616, essv6832446
SamplesSSM100, SSM036, SSM083, SSM013, SSM093, SSM002, SSM041, SSM090, SSM047, SSM069, SSM032, SSM086, SSM033, SSM081, SSM072, SSM082, SSM007, SSM037, SSM022, SSM091, SSM095, SSM099, SSM098
Known GenesTEKT4P2
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)esv2723053
Frequency
Sample Size96
Observed Gain0
Observed Loss23
Observed Complex0
Frequencyn/a


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