A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2731730



Internal ID9966048
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:26378223..26453505hg38UCSC Ensembl
Outerchr6:26378451..26453733hg19UCSC Ensembl
Cytoband6p22.2
Allele length
AssemblyAllele length
hg3875283
hg1975283
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6759968, essv6794585, essv6759854, essv6759865
SamplesSSM061, SSM071, SSM008
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)esv2731730
Frequency
Sample Size96
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer