A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6876277



Internal ID10272131
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr9:5322156..5398154hg38UCSC Ensembl
Outerchr9:5322156..5398154hg19UCSC Ensembl
Cytoband9p24.1
Allele length
AssemblyAllele length
hg3875999
hg1975999
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2738159
Supporting Variants
SamplesSSM092
Known GenesPLGRKT, RLN1
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)essv6876277
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