A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2723049



Internal ID10306685
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr21:9066411..9081638hg38UCSC Ensembl
Outerchr21:9905244..9920471hg19UCSC Ensembl
Cytoband21p11.2
Allele length
AssemblyAllele length
hg3815228
hg1915228
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv683e201
Supporting Variantsessv6703712, essv6766459, essv6735917, essv6941628, essv6853034, essv6913862, essv6821047, essv6710474, essv6747686, essv6784833, essv6933154, essv6666745, essv6758972, essv6937527, essv6753422, essv6794265, essv6738728, essv6961286, essv6756458
SamplesSSM059, SSM039, SSM050, SSM041, SSM057, SSM058, SSM021, SSM029, SSM026, SSM001, SSM086, SSM068, SSM020, SSM015, SSM078, SSM022, SSM055, SSM049, SSM063
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)esv2723049
Frequency
Sample Size96
Observed Gain0
Observed Loss19
Observed Complex0
Frequencyn/a


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