A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2722146



Internal ID10305782
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr20:6170289..6170623hg38UCSC Ensembl
Outerchr20:6150936..6151270hg19UCSC Ensembl
Cytoband20p12.3
Allele length
AssemblyAllele length
hg38335
hg19335
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6909681, essv6895434, essv6858545, essv6873342, essv6824506, essv6835715, essv6725372, essv6678713, essv6880110, essv6882946, essv6852591, essv6685790, essv6820694, essv6828570, essv6807023, essv6796960, essv6967234, essv6960772, essv6666197, essv6868221, essv6692338, essv6925190, essv6901273, essv6721550, essv6945969, essv6863425, essv6703392, essv6810034, essv6784498, essv6674572
SamplesSSM100, SSM036, SSM071, SSM027, SSM075, SSM045, SSM011, SSM079, SSM087, SSM039, SSM093, SSM074, SSM088, SSM023, SSM018, SSM029, SSM026, SSM089, SSM094, SSM032, SSM031, SSM044, SSM014, SSM086, SSM068, SSM082, SSM078, SSM080, SSM034, SSM098
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)esv2722146
Frequency
Sample Size96
Observed Gain0
Observed Loss30
Observed Complex0
Frequencyn/a


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