A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2745452



Internal ID9979736
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:24211588..24212668hg38UCSC Ensembl
Outerchr1:24538078..24539158hg19UCSC Ensembl
Cytoband1p36.11
Allele length
AssemblyAllele length
hg381081
hg191081
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6780883, essv6972364, essv6668970, essv6950574, essv6961575, essv6967940, essv6785001, essv6954760
SamplesSSM027, SSM028, SSM069, SSM029, SSM026, SSM031, SSM068, SSM025
Known GenesLOC284632
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)esv2745452
Frequency
Sample Size96
Observed Gain0
Observed Loss8
Observed Complex0
Frequencyn/a


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