A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2730782



Internal ID10314418
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:131785052..131785142hg38UCSC Ensembl
Outerchr5:131120745..131120835hg19UCSC Ensembl
Cytoband5q31.1
Allele length
AssemblyAllele length
hg3891
hg1991
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6670887
SamplesSSM031
Known GenesFNIP1
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)esv2730782
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