A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv559e199



Internal ID20123861
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:60334536..60336585hg38UCSC Ensembl
chr17:58411897..58413946hg19UCSC Ensembl
Cytoband17q23.2
Allele length
AssemblyAllele length
hg382050
hg192050
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv2665214, esv2660901
SamplesHG01441, NA19445, NA19625, NA19436, NA20809, NA19819, NA18523, NA18874, HG00369, HG01083, NA18612, NA19401, NA19311, NA20508, NA19469, NA20346, NA19072, NA19223, NA19455, NA19435, NA19430, NA19317, NA19359, HG01051, HG01365, NA19453, HG01082, HG01488, NA19449, HG00553, NA19461, NA19834, NA18963, HG01134, HG00146, NA19355, HG00737, NA20322, NA19472, NA20340, HG00247, NA18632, NA19463, NA18624, HG01140, HG01375, NA19390, NA19652, HG00337, NA19057, NA18576, NA19471, NA19900, HG01048, NA19107, HG00692, HG01047, NA19396, HG00628, NA19397, HG00315, NA19398, NA19429, NA19440, NA19835, HG00637, NA19681, HG00276, NA19457, HG00584, NA19316, NA19684, NA20341, NA19213, NA19247, NA19360, HG01097, NA18620, HG01465, NA20291, NA19374, NA19375, NA19373, NA18923, HG00176, NA19713, NA18941, HG00265, NA19704, NA18487, NA19347, NA19332, NA19909, NA19462, HG01149, NA19235, NA19921, NA19376, HG01095, NA18867, NA19403, NA19431, NA19434, NA19818, HG01390, NA20507, HG00530, NA19655, NA18924, HG01108, NA19470, NA19130, HG00641, HG01462, NA19381, NA19473, NA19466, NA19439, HG01198
Known GenesUSP32
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)dgv559e199
Frequency
Sample Size1151
Observed Gain0
Observed Loss119
Observed Complex0
Frequencyn/a


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