A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6965260



Internal ID10069804
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr10:42869663..42869750hg38UCSC Ensembl
Outerchr10:43365111..43365198hg19UCSC Ensembl
Cytoband10q11.21
Allele length
AssemblyAllele length
hg3888
hg1988
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2735717, esv2735706
Supporting Variants
SamplesSSM027
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)essv6965260
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