A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2726768



Internal ID9961076
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:1207602..1207755hg38UCSC Ensembl
Outerchr4:1201390..1201543hg19UCSC Ensembl
Cytoband4p16.3
Allele length
AssemblyAllele length
hg38154
hg19154
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6962701
SamplesSSM027
Known GenesLOC100130872, SPON2
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)esv2726768
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