A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6789908



Internal ID10194279
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:4147939..4148089hg38UCSC Ensembl
Outerchr4:4149666..4149816hg19UCSC Ensembl
Cytoband4p16.3
Allele length
AssemblyAllele length
hg38151
hg19151
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2726965, esv2726960, esv2726963
Supporting Variants
SamplesSSM070
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)essv6789908
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