A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6837279



Internal ID9890534
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:141193679..141210128hg38UCSC Ensembl
Outerchr5:140573252..140589700hg19UCSC Ensembl
Cytoband5q31.3
Allele length
AssemblyAllele length
hg3816450
hg1916449
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2730843, esv2730841, esv2730846
Supporting Variants
SamplesSSM083
Known GenesPCDHB10, PCDHB11, PCDHB12
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)essv6837279
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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