A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6683893



Internal ID9751460
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:176859522..176859790hg38UCSC Ensembl
Outerchr5:176286523..176286791hg19UCSC Ensembl
Cytoband5q35.2
Allele length
AssemblyAllele length
hg38269
hg19269
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2731182
Supporting Variants
SamplesSSM034
Known GenesUNC5A
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)essv6683893
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