A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6824302



Internal ID9878667
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:36098961..36206222hg38UCSC Ensembl
Outerchr17:34426355..34533622hg19UCSC Ensembl
Cytoband17q12
Allele length
AssemblyAllele length
hg38107262
hg19107268
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2715876
Supporting Variants
SamplesSSM079
Known GenesCCL3L1, CCL3L3, CCL4, TBC1D3B
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)essv6824302
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