A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6903590



Internal ID9668629
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:141183971..141194040hg38UCSC Ensembl
Outerchr5:140563546..140573613hg19UCSC Ensembl
Cytoband5q31.3
Allele length
AssemblyAllele length
hg3810070
hg1910068
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2730843, esv2730844, esv2730841
Supporting Variants
SamplesSSM013
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)essv6903590
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer