A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2720010



Internal ID9954306
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:45744415..45744595hg38UCSC Ensembl
Outerchr2:45971554..45971734hg19UCSC Ensembl
Cytoband2p21
Allele length
AssemblyAllele length
hg38181
hg19181
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6847497, essv6785327, essv6789494, essv6675500
SamplesSSM086, SSM032, SSM069, SSM070
Known GenesPRKCE
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)esv2720010
Frequency
Sample Size96
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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