A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6934536



Internal ID9696729
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 StatusS
Merged Variantsesv2730842, esv2730841
Supporting Variants
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)essv6934536
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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