A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6854335



Internal ID9905698
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:1672191..1672303hg38UCSC Ensembl
Outerchr4:1673918..1674030hg19UCSC Ensembl
Cytoband4p16.3
Allele length
AssemblyAllele length
hg38113
hg19113
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2726831, esv2726830
Supporting Variants
SamplesSSM087
Known GenesFAM53A
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)essv6854335
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