A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2722967



Internal ID9957267
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr20:63757488..63758030hg38UCSC Ensembl
Outerchr20:62388841..62389383hg19UCSC Ensembl
Cytoband20q13.33
Allele length
AssemblyAllele length
hg38543
hg19543
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6733103, essv6909741, essv6682482, essv6828642, essv6902176, essv6692393, essv6729237
SamplesSSM036, SSM046, SSM047, SSM014, SSM033, SSM080, SSM012
Known GenesZBTB46
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)esv2722967
Frequency
Sample Size96
Observed Gain0
Observed Loss7
Observed Complex0
Frequencyn/a


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