A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6848437



Internal ID10247075
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:118890551..118890606hg38UCSC Ensembl
Outerchr4:119811706..119811761hg19UCSC Ensembl
Cytoband4q26
Allele length
AssemblyAllele length
hg3856
hg1956
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2728223, esv2728225, esv2728226
Supporting Variants
SamplesSSM086
Known GenesSYNPO2
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)essv6848437
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