A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6757493



Internal ID10165909
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:153610588..153611797hg38UCSC Ensembl
Outerchr6:153931723..153932932hg19UCSC Ensembl
Cytoband6q25.2
Allele length
AssemblyAllele length
hg381210
hg191210
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2732927
Supporting Variants
SamplesSSM059
Known Genes
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)essv6757493
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