A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2733347



Internal ID10316983
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:168316680..168316860hg38UCSC Ensembl
Outerchr6:168717360..168717540hg19UCSC Ensembl
Cytoband6q27
Allele length
AssemblyAllele length
hg38181
hg19181
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6760168
SamplesSSM061
Known GenesDACT2
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)esv2733347
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