A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6919615



Internal ID10029931
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:143323391..143323952hg38UCSC Ensembl
Outerchr8:144405561..144406122hg19UCSC Ensembl
Cytoband8q24.3
Allele length
AssemblyAllele length
hg38562
hg19562
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2738001
Supporting Variants
SamplesSSM017
Known GenesTOP1MT
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)essv6919615
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