A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2730842



Internal ID9965159
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:141174183..141179477hg38UCSC Ensembl
Outerchr5:140553764..140559058hg19UCSC Ensembl
Cytoband5q31.3
Allele length
AssemblyAllele length
hg385295
hg195295
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6934536
SamplesSSM021
Known GenesPCDHB7, PCDHB8
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)esv2730842
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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