A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6865017



Internal ID10261999
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:81014188..81029834hg38UCSC Ensembl
Outerchr4:81935342..81950988hg19UCSC Ensembl
Cytoband4q21.21
Allele length
AssemblyAllele length
hg3815647
hg1915647
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2727875
Supporting Variants
SamplesSSM089
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)essv6865017
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