A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6886516



Internal ID9934838
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:2398745..2398890hg38UCSC Ensembl
Outerchr4:2400472..2400617hg19UCSC Ensembl
Cytoband4p16.3
Allele length
AssemblyAllele length
hg38146
hg19146
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2726845, esv2726835
Supporting Variants
SamplesSSM096
Known GenesZFYVE28
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)essv6886516
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