A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2664940



Internal ID9584359
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:187743528..187747034hg38UCSC Ensembl
Outerchr3:187743157..187747404hg38UCSC Ensembl
Innerchr3:187461316..187464822hg19UCSC Ensembl
Outerchr3:187460945..187465192hg19UCSC Ensembl
Cytoband3q27.3
Allele length
AssemblyAllele length
hg384248
hg194248
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5495129, essv5694939, essv5956419, essv5682347, essv6205025, essv5839022, essv6032150, essv5889802, essv6376365, essv6434440, essv6427266, essv6280285, essv6466430, essv5553066, essv6101273, essv5746466, essv5543398, essv6523513, essv6400932, essv6437226, essv6102114, essv5439700, essv5435567, essv6406427, essv5770027, essv6367207, essv6453812, essv6497331, essv6001364, essv5898710, essv6488356, essv6103195, essv5911252, essv6560219, essv5992207, essv5809929, essv6315134, essv5797015, essv6365736, essv5475469, essv6454818, essv5691464, essv6070236, essv6461225, essv5734200, essv5902654, essv6525293, essv5694386, essv5420391, essv6219121, essv6281055, essv5494852, essv5408289, essv6088646, essv6018332, essv5703611, essv5713583
SamplesNA19394, NA19397, NA19466, NA19350, NA19355, NA19393, NA19443, NA19446, NA19379, NA19448, NA19457, NA19313, NA19384, NA19372, NA19371, NA19385, NA19471, NA19456, NA19445, NA19451, NA19437, NA19403, NA19462, NA19347, NA19391, NA19455, NA19461, NA19449, NA19453, NA19338, NA19452, NA19469, NA19395, NA19436, NA19375, NA19440, NA19390, NA19434, NA19473, NA19435, NA19444, NA19334, NA19439, NA19470, NA19311, NA19467, NA19360, NA19438, NA19472, NA19468, NA19474, NA19430, NA19312, NA19463, NA19429, NA19346, NA19431
Known GenesBCL6
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2664940
Frequency
Sample Size1151
Observed Gain0
Observed Loss57
Observed Complex0
Frequencyn/a


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