A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv816e199



Internal ID20124118
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:17877102..17877546hg38UCSC Ensembl
chr22:18359868..18360312hg19UCSC Ensembl
Cytoband22q11.21
Allele length
AssemblyAllele length
hg38445
hg19445
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv2670806, esv2669396
SamplesNA20281, NA19445, NA19625, HG00537, HG00536, HG01440, HG01353, HG01072, NA19819, NA19404, HG00328, HG01055, HG00500, HG01173, HG01083, HG00464, NA20535, HG00449, NA11918, NA19455, NA20299, HG01079, NA19319, HG00463, HG00614, HG01492, NA19331, NA19920, NA20786, HG01350, NA18546, NA12058, HG00698, HG00651, HG00188, HG01133, HG01521, HG00256, NA18632, HG01107, HG00339, NA19463, HG00158, HG00250, HG01375, NA19917, NA18536, HG00259, NA18623, HG01048, HG00692, HG01047, HG00141, HG00628, NA19397, HG00315, HG00149, NA20541, HG00258, HG00276, NA19457, NA19700, HG00584, NA19213, HG00436, HG00620, HG00108, NA18572, NA19374, HG01066, NA20348, HG00325, NA18498, NA18923, NA18486, NA19102, NA19657, HG01073, NA18941, NA19664, HG01170, NA19704, HG00103, HG00740, HG00524, HG00512, NA19707, NA19328, NA18910, NA19382, NA18579, NA19318, HG00589, NA18619, HG00590, NA12272, NA18599, HG01334, HG00650, HG00663, NA18560, NA19818, NA19770, NA18499, HG00708, HG00693, NA18611, HG01125, HG00251, HG00320, NA20528, HG00641, NA18549, HG01374, HG01489, HG00684, HG00336, HG00476, HG00702, HG00704, NA19750, NA19007, NA07000, HG01067, HG01354, HG00327
Known GenesMICAL3
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)dgv816e199
Frequency
Sample Size1151
Observed Gain0
Observed Loss126
Observed Complex0
Frequencyn/a


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