A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6872640



Internal ID9922173
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:3155448..3178802hg38UCSC Ensembl
Outerchr6:3155682..3179036hg19UCSC Ensembl
Cytoband6p25.2
Allele length
AssemblyAllele length
hg3823355
hg1923355
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2731488
Supporting Variants
SamplesSSM091
Known GenesTUBB2A
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)essv6872640
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