A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2722576



Internal ID9956876
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr20:56526267..56536764hg38UCSC Ensembl
Outerchr20:55101323..55111820hg19UCSC Ensembl
Cytoband20q13.31
Allele length
AssemblyAllele length
hg3810498
hg1910498
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6665921, essv6717737, essv6665910
SamplesSSM004, SSM043
Known GenesFAM209B
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)esv2722576
Frequency
Sample Size96
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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