A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6880958



Internal ID9929658
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:2396121..2396639hg38UCSC Ensembl
Outerchr4:2397848..2398366hg19UCSC Ensembl
Cytoband4p16.3
Allele length
AssemblyAllele length
hg38519
hg19519
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2726841, esv2726835
Supporting Variants
SamplesSSM094
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)essv6880958
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