A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6903193



Internal ID9668272
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:4396508..4396956hg38UCSC Ensembl
Outerchr4:4398235..4398683hg19UCSC Ensembl
Cytoband4p16.3
Allele length
AssemblyAllele length
hg38449
hg19449
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2726967
Supporting Variants
SamplesSSM013
Known GenesNSG1
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)essv6903193
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