A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6864968



Internal ID10261954
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:53353788..53353892hg38UCSC Ensembl
Outerchr4:54219955..54220059hg19UCSC Ensembl
Cytoband4q12
Allele length
AssemblyAllele length
hg38105
hg19105
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2727606, esv2727608
Supporting Variants
SamplesSSM089
Known GenesSCFD2
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)essv6864968
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