A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6929065



Internal ID10041055
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:24193885..24197014hg38UCSC Ensembl
Outerchr1:24520375..24523504hg19UCSC Ensembl
Cytoband1p36.11
Allele length
AssemblyAllele length
hg383130
hg193130
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2745441
Supporting Variants
SamplesSSM020
Known Genes
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)essv6929065
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