A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2723514



Internal ID10307150
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr21:41954850..41955136hg38UCSC Ensembl
Outerchr21:43374959..43375245hg19UCSC Ensembl
Cytoband21q22.3
Allele length
AssemblyAllele length
hg38287
hg19287
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6735940, essv6933205, essv6769434, essv6876097, essv6950444, essv6839871, essv6721904, essv6937575, essv6801541, essv6821091, essv6836081, essv6859080, essv6824879, essv6874643, essv6967802, essv6888943, essv6909972, essv6807318, essv6729528, essv6682762, essv6895774, essv6902444, essv6871656, essv6916174, essv6843806, essv6675105, essv6816165, essv6906044, essv6689195, essv6954598, essv6793187, essv6846906, essv6703761
SamplesSSM083, SSM027, SSM024, SSM046, SSM011, SSM064, SSM079, SSM087, SSM039, SSM013, SSM009, SSM074, SSM002, SSM084, SSM090, SSM021, SSM096, SSM035, SSM031, SSM044, SSM014, SSM033, SSM085, SSM072, SSM082, SSM020, SSM078, SSM091, SSM070, SSM025, SSM098, SSM049, SSM012
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)esv2723514
Frequency
Sample Size96
Observed Gain0
Observed Loss33
Observed Complex0
Frequencyn/a


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