A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv533e199



Internal ID22758306
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:8692689..8692926hg38UCSC Ensembl
chr17:8596007..8596244hg19UCSC Ensembl
Cytoband17p13.1
Allele length
AssemblyAllele length
hg38238
hg19238
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv2657755, esv2671009
SamplesNA19394, HG00542, HG00442, NA19397, NA18924, NA19664, HG00671, NA19399, NA18486, NA19819, NA18596, HG00177, HG01051, NA18633, HG00127, NA19076, HG01350, NA19379, NA18940, HG01366, NA18595, HG01488, HG00346, NA18498, HG00537, HG00590, NA19720, HG01067, NA19383, HG00683, HG00232, NA20340, NA19372, NA19371, NA19731, HG00534, HG00422, HG01440, HG00427, NA18557, HG01133, HG00323, HG00419, HG00464, HG00313, NA18544, NA18613, NA19657, HG01171, HG00557, HG00428, HG00653, HG00701, NA19391, HG00475, NA19663, HG00556, HG00583, NA18637, NA18534, NA18548, HG01390, NA18566, HG00273, NA20299, HG00531, NA12829, NA18856, HG01383, HG01101, HG00613, HG00321, HG00704, HG00246, NA18634, HG01107, HG01204, HG01148, NA18961, NA18559, NA19434, HG00375, HG00136, HG00473, NA19428, HG00256, HG00662, HG00418, NA19759, HG00614, HG00329, HG00656, NA20334, HG01055, NA19770, HG00698, HG00280, HG00372, HG00437, NA18562, NA18620
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)dgv533e199
Frequency
Sample Size1151
Observed Gain0
Observed Loss101
Observed Complex0
Frequencyn/a


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