A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2731998



Internal ID10315634
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:43418240..43418366hg38UCSC Ensembl
Outerchr6:43385978..43386104hg19UCSC Ensembl
Cytoband6p21.1
Allele length
AssemblyAllele length
hg38127
hg19127
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6671115, essv6855239, essv6855288, essv6963746, essv6887023, essv6860881
SamplesSSM027, SSM011, SSM087, SSM088, SSM096, SSM031
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)esv2731998
Frequency
Sample Size96
Observed Gain0
Observed Loss6
Observed Complex0
Frequencyn/a


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