A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6693940



Internal ID10109728
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:79818735..79818905hg38UCSC Ensembl
Outerchr5:79114558..79114728hg19UCSC Ensembl
Cytoband5q14.1
Allele length
AssemblyAllele length
hg38171
hg19171
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2730359, esv2730360
Supporting Variants
SamplesSSM037
Known Genes
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)essv6693940
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