A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2727533



Internal ID9961843
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:47923194..47923384hg38UCSC Ensembl
Outerchr4:47925211..47925401hg19UCSC Ensembl
Cytoband4p12
Allele length
AssemblyAllele length
hg38191
hg19191
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6973824, essv6805027
SamplesSSM074, SSM029
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)esv2727533
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