A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2722402



Internal ID9956701
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr20:38895524..38896217hg38UCSC Ensembl
Outerchr20:37524167..37524860hg19UCSC Ensembl
Cytoband20q11.23
Allele length
AssemblyAllele length
hg38694
hg19694
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6932853, essv6729195, essv6774375, essv6905743, essv6810056, essv6902130, essv6665799, essv6874332, essv6788714, essv6921182, essv6750303, essv6758807, essv6696546, essv6773000, essv6682437, essv6835749, essv6776564, essv6693243, essv6721591
SamplesSSM065, SSM013, SSM082, SSM091, SSM033, SSM020, SSM001, SSM005, SSM012, SSM056, SSM017, SSM066, SSM069, SSM037, SSM046, SSM044, SSM004, SSM075, SSM059
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)esv2722402
Frequency
Sample Size96
Observed Gain0
Observed Loss19
Observed Complex0
Frequencyn/a


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