A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv482e199



Internal ID20123784
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:17381792..17385889hg38UCSC Ensembl
chr16:17475649..17479746hg19UCSC Ensembl
Cytoband16p12.3
Allele length
AssemblyAllele length
hg384098
hg194098
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv2656946, esv2662154
SamplesHG00613, NA19012, HG00619, NA18534, NA18535, NA19081, HG00437, HG00464, NA18570, HG00707, HG01197, HG00614, NA19788, NA18541, HG00701, NA18963, HG00404, NA19651, NA19108, NA18965, HG01107, HG00556, NA19085, NA19652, HG00421, NA18623, NA18617, NA19066, NA19056, HG00403, NA18634, NA19213, HG00436, NA19725, NA18537, NA18620, NA18633, HG01066, HG00629, HG00560, NA18941, NA18858, NA18613, HG01070, HG00525, NA19074, NA12891, NA18987, NA19009, HG00663, NA18989, NA12878, NA19064, NA19225, NA19070, HG00473, HG00671, NA19779, NA19058, HG00531, HG01198
Known GenesXYLT1
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)dgv482e199
Frequency
Sample Size1151
Observed Gain0
Observed Loss61
Observed Complex0
Frequencyn/a


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