A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2722599



Internal ID9956899
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr20:57190341..57190412hg38UCSC Ensembl
Outerchr20:55765397..55765468hg19UCSC Ensembl
Cytoband20q13.31
Allele length
AssemblyAllele length
hg3872
hg1972
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6868278
SamplesSSM089
Known GenesBMP7
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)esv2722599
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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