A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6963454



Internal ID9722508
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:141183989..141194038hg38UCSC Ensembl
Outerchr5:140563564..140573611hg19UCSC Ensembl
Cytoband5q31.3
Allele length
AssemblyAllele length
hg3810050
hg1910048
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2730843, esv2730844, esv2730841
Supporting Variants
SamplesSSM027
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)essv6963454
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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