A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2722403



Internal ID9956702
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr20:38895696..38896066hg38UCSC Ensembl
Outerchr20:37524339..37524709hg19UCSC Ensembl
Cytoband20q11.23
Allele length
AssemblyAllele length
hg38371
hg19371
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6874332, essv6835749, essv6810056, essv6788714, essv6776564, essv6696546, essv6721591
SamplesSSM075, SSM069, SSM044, SSM066, SSM082, SSM037, SSM091
Known GenesPPP1R16B
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)esv2722403
Frequency
Sample Size96
Observed Gain0
Observed Loss7
Observed Complex0
Frequencyn/a


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