A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6751459



Internal ID9812692
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:141183951..141193953hg38UCSC Ensembl
Outerchr5:140563526..140573526hg19UCSC Ensembl
Cytoband5q31.3
Allele length
AssemblyAllele length
hg3810003
hg1910001
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2730843, esv2730844, esv2730841
Supporting Variants
SamplesSSM057
Known GenesPCDHB10, PCDHB16, PCDHB9
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)essv6751459
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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