A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2749329



Internal ID9983613
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:66139164..66139768hg38UCSC Ensembl
Outerchr1:66604847..66605451hg19UCSC Ensembl
Cytoband1p31.3
Allele length
AssemblyAllele length
hg38605
hg19605
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6738852, essv6736011
SamplesSSM050, SSM052
Known GenesPDE4B
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)esv2749329
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