A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv755e199



Internal ID22758528
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:203033922..203040169hg38UCSC Ensembl
chr2:203898645..203904892hg19UCSC Ensembl
Cytoband2q33.2
Allele length
AssemblyAllele length
hg386248
hg196248
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv2666389, esv2660596
SamplesHG00536, HG00142, HG00249, NA19664, HG00242, NA10851, NA12273, NA12414, HG01188, NA11931, HG01465, NA19393, NA12340, NA18606, HG00737, NA20808, HG00150, HG01051, HG00261, NA12155, NA12413, NA12341, HG00271, NA20814, NA07346, HG00138, NA19660, HG00122, NA07347, NA12283, NA12287, HG00369, NA19782, HG00185, NA12761, NA20759, HG01067, NA18874, HG00106, HG01519, HG00156, NA20812, HG01495, NA11932, HG00232, NA11994, NA18617, HG00160, HG00118, HG01198, NA20342, NA12828, NA20753, HG00260, HG00133, HG01183, HG01136, NA12489, HG00557, HG00577, HG01515, NA20760, HG00584, HG00263, NA19788, HG00692, HG00740, HG01047, NA19654, NA20581, HG01197, NA20538, NA12249, NA18532, NA12827, HG01334, NA19682, NA12144, NA12778, HG00126, NA19685, HG01148, NA19652, HG00155, NA20801, NA19834, NA18952, HG00366, HG00375, NA20520, NA12046, NA20790, NA20527, NA07037, NA12763, NA19085, NA06986, HG00339, HG00269, HG01491, NA20786, NA19102, HG01251, NA20502, NA07056, HG00554, NA20754, HG01061, HG00437, HG01516
Known GenesNBEAL1
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)dgv755e199
Frequency
Sample Size1151
Observed Gain0
Observed Loss110
Observed Complex0
Frequencyn/a


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