A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv860e199



Internal ID20124162
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:46753848..46809682hg38UCSC Ensembl
chr3:46795338..46851172hg19UCSC Ensembl
Cytoband3p21.31
Allele length
AssemblyAllele length
hg3855835
hg1955835
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv2668994, esv2678515, esv2660220
SamplesNA19700, NA19055, NA19397, NA18924, NA19909, NA19466, NA19204, NA19399, NA19914, NA19704, NA18917, HG00318, NA19350, NA18486, NA20294, NA19355, NA19393, NA20332, NA20346, NA19098, NA19920, NA18510, NA19374, NA19381, NA19373, NA19171, NA19379, NA19319, NA19315, NA18489, NA19448, NA18923, NA19198, NA19916, HG00330, NA19457, NA19313, HG01083, NA19138, NA20287, NA19681, NA19904, NA20291, NA19130, NA19383, NA18874, NA18868, NA19137, NA19372, NA19371, NA19235, NA19207, NA19385, NA19172, NA19901, NA19189, NA20342, NA19209, NA19456, NA20127, NA18908, NA19985, NA19451, NA19200, HG00149, NA19908, NA19247, NA19437, NA19707, NA18934, NA19403, NA19152, NA19391, NA19455, NA19663, NA18871, NA20344, HG01073, NA19461, NA19449, NA19453, NA18912, NA18853, NA20282, NA19099, NA19257, NA19452, NA19225, NA19625, NA19401, NA19440, NA19390, NA18909, NA19108, NA19256, NA18517, NA20276, NA19712, NA19434, NA19473, NA19435, NA19444, NA19331, NA19380, NA19144, NA19835, HG00237, NA19428, NA19324, NA19467, NA20281, NA19376, NA19328, NA18501, NA20348, NA19248, NA19438, NA19223, NA19713, NA19474, NA19093, NA20289, NA18873, NA19711, NA19213, NA19129, NA19312, NA18522, NA19429, NA19346, NA19153, NA19431
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)dgv860e199
Frequency
Sample Size1151
Observed Gain0
Observed Loss132
Observed Complex0
Frequencyn/a


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