A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6799642



Internal ID10201304
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:142516493..142516909hg38UCSC Ensembl
Outerchr8:143597854..143598270hg19UCSC Ensembl
Cytoband8q24.3
Allele length
AssemblyAllele length
hg38417
hg19417
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2737904
Supporting Variants
SamplesSSM072
Known GenesBAI1
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)essv6799642
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