A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2722035



Internal ID10305671
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr20:709628..710064hg38UCSC Ensembl
Outerchr20:690272..690708hg19UCSC Ensembl
Cytoband20p13
Allele length
AssemblyAllele length
hg38437
hg19437
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv645e201
Supporting Variantsessv6796941, essv6839479, essv6801160, essv6733015, essv6744898, essv6810024, essv6880100, essv6725357, essv6674557, essv6807011, essv6816180, essv6868199
SamplesSSM083, SSM071, SSM075, SSM045, SSM093, SSM074, SSM047, SSM089, SSM031, SSM072, SSM007, SSM077
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)esv2722035
Frequency
Sample Size96
Observed Gain0
Observed Loss12
Observed Complex0
Frequencyn/a


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