A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2744308



Internal ID10325278
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:15455456..15475909hg38UCSC Ensembl
Outerchr1:15781951..15802404hg19UCSC Ensembl
Cytoband1p36.21
Allele length
AssemblyAllele length
hg3820454
hg1920454
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6868711, essv6843843, essv6902529, essv6824980, essv6797448, essv6692761, essv6921716, essv6750595, essv6675199, essv6863958, essv6780869
SamplesSSM011, SSM013, SSM057, SSM090, SSM018, SSM089, SSM032, SSM068, SSM072, SSM080, SSM037
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)esv2744308
Frequency
Sample Size96
Observed Gain0
Observed Loss11
Observed Complex0
Frequencyn/a


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