A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6923374



Internal ID9987311
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:32069349..32072755hg38UCSC Ensembl
Outerchr4:32070971..32074377hg19UCSC Ensembl
Cytoband4p15.1
Allele length
AssemblyAllele length
hg383407
hg193407
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2727365
Supporting Variants
SamplesSSM003
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)essv6923374
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