A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2728435



Internal ID9962749
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:140281101..140281450hg38UCSC Ensembl
Outerchr4:141202255..141202604hg19UCSC Ensembl
Cytoband4q31.1
Allele length
AssemblyAllele length
hg38350
hg19350
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6924540, essv6711472
SamplesSSM042, SSM003
Known GenesSCOC
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)esv2728435
Frequency
Sample Size96
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer