A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv5548n54



Internal ID20138972
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:36212480..36247042hg38UCSC Ensembl
chr17:34539882..34574488hg19UCSC Ensembl
chr17:31563995..31598601hg18UCSC Ensembl
Cytoband17q12
Allele length
AssemblyAllele length
hg3834563
hg1934607
hg1834607
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv574811, nsv574813, nsv574810
Samples
Known GenesCCL4L1, CCL4L2
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv5548n54
Frequency
Sample Size17421
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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