A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2722114



Internal ID10305750
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr20:2969638..2969931hg38UCSC Ensembl
Outerchr20:2950284..2950577hg19UCSC Ensembl
Cytoband20p13
Allele length
AssemblyAllele length
hg38294
hg19294
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6954189, essv6666189, essv6741787, essv6758788, essv6682408, essv6744987, essv6779921, essv6941287
SamplesSSM059, SSM008, SSM029, SSM033, SSM007, SSM022, SSM025, SSM052
Known GenesPTPRA
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)esv2722114
Frequency
Sample Size96
Observed Gain0
Observed Loss8
Observed Complex0
Frequencyn/a


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