A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2723419



Internal ID10307055
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr21:38528368..38528759hg38UCSC Ensembl
Outerchr21:39900292..39900683hg19UCSC Ensembl
Cytoband21q22.2
Allele length
AssemblyAllele length
hg38392
hg19392
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6784875, essv6888936, essv6892231, essv6824871, essv6689187, essv6816500, essv6836070, essv6813102, essv6807310, essv6810286, essv6821079, essv6797339, essv6793182, essv6714138, essv6695310, essv6773344, essv6692662, essv6666808, essv6961359, essv6898540, essv6967788, essv6950438, essv6876053, essv6868644
SamplesSSM036, SSM071, SSM027, SSM024, SSM075, SSM011, SSM079, SSM065, SSM097, SSM074, SSM042, SSM029, SSM096, SSM026, SSM089, SSM035, SSM068, SSM082, SSM078, SSM005, SSM077, SSM076, SSM070, SSM099
Known GenesERG
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)esv2723419
Frequency
Sample Size96
Observed Gain0
Observed Loss24
Observed Complex0
Frequencyn/a


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