A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6672282



Internal ID9744420
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:144612571..144612716hg38UCSC Ensembl
Outerchr8:145837956..145838101hg19UCSC Ensembl
Cytoband8q24.3
Allele length
AssemblyAllele length
hg38146
hg19146
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2738088, esv2738082
Supporting Variants
SamplesSSM031
Known GenesARHGAP39
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)essv6672282
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