A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2660220



Internal ID9579639
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:46754014..46809682hg38UCSC Ensembl
chr3:46795504..46851172hg19UCSC Ensembl
Cytoband3p21.31
Allele length
AssemblyAllele length
hg3855669
hg1955669
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv860e199
Supporting Variantsessv5616521, essv5881191, essv5814497, essv5687402, essv6324075, essv6236996, essv6000122, essv6336456, essv6278006, essv6342972, essv6241511, essv5830245, essv5615931, essv5796524, essv5426447, essv5984983, essv6353926, essv6331459, essv5969468, essv6241293, essv6323863, essv6312980, essv6308590, essv6388825, essv5689049, essv6204576, essv6090502, essv6326032, essv5572794, essv6430320, essv5627856, essv6561388, essv6113917, essv6005496, essv6033496, essv5986315, essv5901360, essv5877897, essv5520988, essv5483026, essv5853452, essv6315413, essv6115127, essv6402268, essv6528300, essv6345403, essv5474633, essv5754033, essv6445087, essv5786427, essv5463842, essv6013624, essv5503736, essv6089424, essv6194997, essv5714529, essv6267841, essv5890668, essv5397280, essv6399867, essv5413608, essv5963615, essv6316293, essv5641014, essv5434609, essv6041674, essv6549111, essv6369636, essv6192390, essv6440995, essv6154013, essv5772385, essv5945447, essv6471956, essv6057597, essv5550930, essv5680176, essv6290176, essv5411548, essv6111055, essv5522610, essv5489132, essv5868504
SamplesNA19700, NA19397, NA19909, NA19466, NA19399, NA19914, NA19704, NA19350, NA20294, NA19355, NA19393, NA20332, NA20346, NA19920, NA19374, NA19381, NA19373, NA19379, NA19319, NA19315, NA19448, NA19916, NA19457, NA19313, HG01083, NA20287, NA19904, NA20291, NA19130, NA19383, NA18874, NA19372, NA19371, NA19235, NA19385, NA19901, NA20342, NA19456, NA20127, NA19985, NA19451, NA19908, NA19437, NA19707, NA19403, NA19391, NA19455, NA19663, NA20344, NA19461, NA19449, NA19453, NA20282, NA19452, NA19625, NA19401, NA19440, NA19390, NA20276, NA19712, NA19434, NA19473, NA19435, NA19444, NA19331, NA19380, NA19835, NA19428, NA19324, NA19467, NA20281, NA19376, NA19328, NA20348, NA19438, NA19713, NA19474, NA20289, NA19711, NA19312, NA19429, NA19346, NA19431
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2660220
Frequency
Sample Size1151
Observed Gain0
Observed Loss83
Observed Complex0
Frequencyn/a


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