A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2722388



Internal ID9956687
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr20:37361808..37361938hg38UCSC Ensembl
Outerchr20:35990211..35990341hg19UCSC Ensembl
Cytoband20q11.23
Allele length
AssemblyAllele length
hg38131
hg19131
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6863461, essv6710260, essv6858582
SamplesSSM088, SSM041, SSM087
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)esv2722388
Frequency
Sample Size96
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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