A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6908430



Internal ID9672265
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr9:103014751..103014851hg38UCSC Ensembl
Outerchr9:105777033..105777133hg19UCSC Ensembl
Cytoband9q31.1
Allele length
AssemblyAllele length
hg38101
hg19101
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2738858, esv2738857, esv2738861
Supporting Variants
SamplesSSM014
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)essv6908430
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