A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6748757



Internal ID10158311
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:43417855..43418496hg38UCSC Ensembl
Outerchr6:43385593..43386234hg19UCSC Ensembl
Cytoband6p21.1
Allele length
AssemblyAllele length
hg38642
hg19642
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2731996
Supporting Variants
SamplesSSM056
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)essv6748757
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