A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2737653



Internal ID10321289
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:135983049..135983699hg38UCSC Ensembl
Outerchr8:136995292..136995942hg19UCSC Ensembl
Cytoband8q24.23
Allele length
AssemblyAllele length
hg38651
hg19651
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6934340, essv6694938, essv6912022, essv6970154, essv6672213
SamplesSSM028, SSM003, SSM031, SSM015, SSM037
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)esv2737653
Frequency
Sample Size96
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer