A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2722387



Internal ID9956686
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr20:37361693..37361982hg38UCSC Ensembl
Outerchr20:35990096..35990385hg19UCSC Ensembl
Cytoband20q11.23
Allele length
AssemblyAllele length
hg38290
hg19290
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6874330, essv6824541, essv6858582, essv6710260, essv6873631, essv6863461, essv6682435, essv6725408
SamplesSSM045, SSM011, SSM079, SSM087, SSM088, SSM041, SSM033, SSM091
Known GenesSRC
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)esv2722387
Frequency
Sample Size96
Observed Gain0
Observed Loss8
Observed Complex0
Frequencyn/a


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