A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6914677



Internal ID10025784
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:58563103..58569365hg38UCSC Ensembl
Outerchr4:59429268..59435530hg19UCSC Ensembl
Cytoband4q12
Allele length
AssemblyAllele length
hg386263
hg196263
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2727656
Supporting Variants
SamplesSSM016
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)essv6914677
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