A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6666250



Internal ID10079775
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr20:39709038..39709123hg38UCSC Ensembl
Outerchr20:38337680..38337765hg19UCSC Ensembl
Cytoband20q12
Allele length
AssemblyAllele length
hg3886
hg1986
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2722410, esv2722411
Supporting Variants
SamplesSSM029
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)essv6666250
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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