A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3893001



Internal ID18837135
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:36135943..36198514hg38UCSC Ensembl
Outerchr17:36098851..36215910hg38UCSC Ensembl
Innerchr17:34463323..34525914hg19UCSC Ensembl
Outerchr17:34426245..34543364hg19UCSC Ensembl
Innerchr17:31487436..31550027hg18UCSC Ensembl
Outerchr17:31450358..31567477hg18UCSC Ensembl
Cytoband17q12
Allele length
AssemblyAllele length
hg38117060
hg19117120
hg18117120
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv25788752, essv25789415, essv25792614, essv25790223, essv25788810, essv25790054, essv25790244, essv25792990, essv25791200, essv25788404, essv25789533, essv25788550, essv25789598, essv25788394, essv25790791, essv25792640, essv25789277, essv25789163, essv25789572, essv25789938, essv25792233, essv25791594, essv25788454, essv25788442, essv25791875, essv25788377, essv25791626, essv25792940
Samples
Known GenesCCL3L1, CCL3L3, CCL4, CCL4L1, CCL4L2, TBC1D3B
MethodSNP array
Analysis
PlatformIllumina HumanHap 610
Comments
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)esv3893001
Frequency
Sample Size3017
Observed Gain28
Observed Loss0
Observed Complex0
Frequencyn/a


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