A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2722911



Internal ID9957211
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr20:63356980..63357500hg38UCSC Ensembl
Outerchr20:61988332..61988852hg19UCSC Ensembl
Cytoband20q13.33
Allele length
AssemblyAllele length
hg38521
hg19521
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv678e201
Supporting Variantsessv6721629, essv6692389, essv6858649, essv6937208, essv6841176, essv6725440, essv6816241, essv6874361, essv6967339, essv6784577, essv6950094, essv6674671, essv6852707, essv6788756, essv6882996
SamplesSSM036, SSM027, SSM024, SSM045, SSM087, SSM021, SSM069, SSM094, SSM031, SSM044, SSM086, SSM068, SSM077, SSM010, SSM091
Known GenesCHRNA4
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)esv2722911
Frequency
Sample Size96
Observed Gain0
Observed Loss15
Observed Complex0
Frequencyn/a


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