A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2732458



Internal ID10316094
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:96132260..96132348hg38UCSC Ensembl
Outerchr6:96580136..96580224hg19UCSC Ensembl
Cytoband6q16.1
Allele length
AssemblyAllele length
hg3889
hg1989
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6818308, essv6957105
SamplesSSM026, SSM078
Known GenesFUT9
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)esv2732458
Frequency
Sample Size96
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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