A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6684117



Internal ID9753394
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:167249912..167408624hg38UCSC Ensembl
Outerchr6:167663400..167822112hg19UCSC Ensembl
Cytoband6q27
Allele length
AssemblyAllele length
hg38158713
hg19158713
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2733230
Supporting Variants
SamplesSSM034
Known GenesTCP10, TTLL2, UNC93A
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)essv6684117
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