A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2730024



Internal ID9964339
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:32039150..32039564hg38UCSC Ensembl
Outerchr5:32039256..32039670hg19UCSC Ensembl
Cytoband5p13.3
Allele length
AssemblyAllele length
hg38415
hg19415
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6711623
SamplesSSM042
Known GenesPDZD2
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)esv2730024
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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