A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6939785



Internal ID10047207
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:143322615..143322873hg38UCSC Ensembl
Outerchr8:144404785..144405043hg19UCSC Ensembl
Cytoband8q24.3
Allele length
AssemblyAllele length
hg38259
hg19259
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2737998, esv2738000, esv2737999
Supporting Variants
SamplesSSM022
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)essv6939785
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