A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2723221



Internal ID10306857
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr21:18987448..18988233hg38UCSC Ensembl
Outerchr21:20359766..20360551hg19UCSC Ensembl
Cytoband21q21.1
Allele length
AssemblyAllele length
hg38786
hg19786
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6961324, essv6902421, essv6933180, essv6950419, essv6967761, essv6917309, essv6839847, essv6901522, essv6874623, essv6795153, essv6696903, essv6954569, essv6972161, essv6941656, essv6744870, essv6807295, essv6784856, essv6871635, essv6699515, essv6832466, essv6780728, essv6906016, essv6885905, essv6824852, essv6949240, essv6721877, essv6675061, essv6888919, essv6892216, essv6916029, essv6859039, essv6793164, essv6946358, essv6668488, essv6747599, essv6725724, essv6846889
SamplesSSM100, SSM083, SSM027, SSM024, SSM045, SSM079, SSM087, SSM038, SSM097, SSM013, SSM074, SSM002, SSM023, SSM028, SSM090, SSM096, SSM026, SSM003, SSM031, SSM067, SSM044, SSM001, SSM085, SSM068, SSM081, SSM020, SSM007, SSM016, SSM053, SSM037, SSM022, SSM091, SSM070, SSM095, SSM025, SSM004, 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)esv2723221
Frequency
Sample Size96
Observed Gain0
Observed Loss37
Observed Complex0
Frequencyn/a


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