A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2723671



Internal ID9957971
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr21:44522554..44523565hg38UCSC Ensembl
Outerchr21:45942437..45943448hg19UCSC Ensembl
Cytoband21q22.3
Allele length
AssemblyAllele length
hg381012
hg191012
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6718081, essv6744899, essv6868666, essv6742094, essv6949651, essv6780772, essv6921646, essv6937591, essv6761818, essv6821106, essv6798264, essv6972220, essv6747832, essv6699541, essv6668766, essv6941702, essv6816253, essv6759003, essv6898557, essv6766494, essv6946413, essv6877628, essv6836096, essv6692681, essv6707216, essv6901550, essv6816513, essv6933225, essv6666843, essv6682774, essv6967822, essv6733433, essv6714160, essv6895788, essv6776847, essv6874654, essv6853127, essv6950458, essv6961399
SamplesSSM022, SSM007, SSM027, SSM092, SSM053, SSM082, SSM086, SSM036, SSM091, SSM033, SSM061, SSM099, SSM042, SSM040, SSM078, SSM043, SSM089, SSM020, SSM001, SSM024, SSM067, SSM077, SSM100, SSM017, SSM009, SSM066, SSM028, SSM029, SSM003, SSM047, SSM021, SSM063, SSM038, SSM023, SSM052, SSM004, SSM026, SSM098, SSM059
Known GenesTSPEAR
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)esv2723671
Frequency
Sample Size96
Observed Gain0
Observed Loss39
Observed Complex0
Frequencyn/a


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