A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6958247



Internal ID9720108
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:126179971..126182401hg38UCSC Ensembl
Outerchr8:127192215..127194645hg19UCSC Ensembl
Cytoband8q24.13
Allele length
AssemblyAllele length
hg382431
hg192431
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2737556, esv2737545
Supporting Variants
SamplesSSM026
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)essv6958247
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