A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6923860



Internal ID9686495
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr9:103014614..103014765hg38UCSC Ensembl
Outerchr9:105776896..105777047hg19UCSC Ensembl
Cytoband9q31.1
Allele length
AssemblyAllele length
hg38152
hg19152
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2738859, esv2738858, esv2738857
Supporting Variants
SamplesSSM018
Known GenesCYLC2
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)essv6923860
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