A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2678985



Internal ID9945090
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:82962439..82962547hg38UCSC Ensembl
chr17:80920315..80920423hg19UCSC Ensembl
Cytoband17q25.3
Allele length
AssemblyAllele length
hg38109
hg19109
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5671516, essv5476204, essv5486793, essv5974052, essv5778925, essv5694981, essv5959006, essv5862995, essv5455695, essv6585935, essv5440632, essv6468989, essv6423620, essv5637663, essv6319464, essv5521745, essv6426662, essv5893376, essv6105874, essv5459521, essv5972506, essv5724268, essv5518199, essv6360468, essv6359088, essv6256784, essv6359855, essv5714557, essv5950867, essv5968302, essv5928003, essv6128558, essv5863293, essv5400541, essv5956645, essv6400632, essv5793918, essv6236227, essv6166327, essv6213232, essv5772125, essv6206340, essv6276659, essv5934409, essv5745262, essv5912157, essv6369350, essv5778559, essv5498234, essv5769343, essv5563020, essv6290705
SamplesHG01060, HG00650, HG00442, NA18621, HG00671, NA18530, HG00449, HG01051, HG00261, HG00693, HG00138, HG01350, HG01070, NA18611, HG00139, HG00309, NA18638, HG00464, HG00313, HG00137, HG00154, NA18951, NA18605, NA18613, HG00282, HG00328, HG00701, HG00475, HG00584, HG00500, HG00275, NA18572, HG00619, HG00324, HG00479, NA18532, HG00336, NA18543, HG00580, HG00278, HG00607, HG01108, HG00256, HG00620, HG00513, NA18636, HG00280, HG00252, NA18624, NA18623, HG00437, NA18562
Known GenesB3GNTL1
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2678985
Frequency
Sample Size1151
Observed Gain0
Observed Loss52
Observed Complex0
Frequencyn/a


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