A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6818308



Internal ID10220886
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 StatusS
Merged Variantsesv2732457, esv2732458
Supporting Variants
SamplesSSM078
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)essv6818308
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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