A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6843843



Internal ID10009882
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:15456494..15475908hg38UCSC Ensembl
Outerchr1:15782989..15802403hg19UCSC Ensembl
Cytoband1p36.21
Allele length
AssemblyAllele length
hg3819415
hg1919415
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2744308
Supporting Variants
SamplesSSM011
Known GenesCELA2A
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)essv6843843
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