A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6668014



Internal ID10085022
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr9:134798330..134799149hg38UCSC Ensembl
Outerchr9:137690176..137690995hg19UCSC Ensembl
Cytoband9q34.3
Allele length
AssemblyAllele length
hg38820
hg19820
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2739244
Supporting Variants
SamplesSSM030
Known GenesCOL5A1
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)essv6668014
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