A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv862e199



Internal ID22758635
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:52993132..53005076hg38UCSC Ensembl
chr3:53027148..53039092hg19UCSC Ensembl
Cytoband3p21.1
Allele length
AssemblyAllele length
hg3811945
hg1911945
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv2675135, esv2669886
SamplesHG01060, HG00592, HG00143, NA18621, HG01359, HG01079, HG00151, NA20805, NA12340, NA12058, HG00737, NA18633, NA07357, NA07346, NA19660, HG01350, HG01070, HG00251, NA20798, HG01488, NA18558, HG00330, NA20769, HG00736, HG00346, NA12287, HG00270, HG00243, HG00158, HG01080, HG00120, NA20518, HG00262, NA19719, NA11932, HG01072, NA11994, HG00534, NA19725, NA18557, HG01048, NA19789, NA18638, HG00264, HG00133, NA19908, HG00731, HG00266, HG00596, HG00653, HG01095, NA19717, NA19982, HG00708, NA18548, HG00479, NA20538, NA19750, HG00525, HG01497, NA19761, HG00146, NA19682, NA12144, NA12778, NA19675, NA19685, NA18632, HG00124, NA19834, NA19749, NA20530, HG01375, HG00473, HG00237, NA19679, HG00256, NA19716, HG01055, NA18609, NA12890, HG01191
Known GenesSFMBT1
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)dgv862e199
Frequency
Sample Size1151
Observed Gain0
Observed Loss82
Observed Complex0
Frequencyn/a


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