A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2733145



Internal ID10316781
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:164962816..164963181hg38UCSC Ensembl
Outerchr6:165376305..165376670hg19UCSC Ensembl
Cytoband6q27
Allele length
AssemblyAllele length
hg38366
hg19366
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6943586, essv6694304
SamplesSSM023, SSM037
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)esv2733145
Frequency
Sample Size96
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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