A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv539e199



Internal ID20123841
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:21651521..22715771hg38UCSC Ensembl
chr17:21550164..22215098hg19UCSC Ensembl
Cytoband17p11.1
Allele length
AssemblyAllele length
hg381064251
hg19664935
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv2666508, esv2672459, esv2677642, esv2669759, esv2675686, esv2660860, esv2664707, esv2659416, esv2676591, esv2662973
SamplesHG00613, HG01072, HG00705, HG01082, HG00683, HG01375, NA19663, NA19247, HG00325, HG00560, NA19713, NA18941, NA19704, NA19720, HG00534, NA19462, HG00595, NA19376, HG00663, HG00311, HG00285, HG00476, HG00702
Known GenesFAM27L, FLJ36000, MTRNR2L1
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)dgv539e199
Frequency
Sample Size1151
Observed Gain0
Observed Loss23
Observed Complex0
Frequencyn/a


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