A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6759854



Internal ID9655443
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:26378306..26453444hg38UCSC Ensembl
Outerchr6:26378534..26453672hg19UCSC Ensembl
Cytoband6p22.2
Allele length
AssemblyAllele length
hg3875139
hg1975139
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2731730
Supporting Variants
SamplesSSM008
Known GenesBTN2A2, BTN2A3P, BTN3A1, BTN3A2, BTN3A3
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)essv6759854
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