A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2659984



Internal ID9926089
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:51818232..51821838hg38UCSC Ensembl
Outerchr12:51817861..51822208hg38UCSC Ensembl
Innerchr12:52212016..52215622hg19UCSC Ensembl
Outerchr12:52211645..52215992hg19UCSC Ensembl
Cytoband12q13.13
Allele length
AssemblyAllele length
hg384348
hg194348
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5727104, essv5794253, essv5544176, essv6145002, essv5425807, essv6019598, essv5427073, essv5988301, essv6420921, essv6154008, essv5797474, essv5412430, essv6152931, essv5806774, essv5663716, essv6357818, essv5698482, essv6277073, essv5677426, essv5942132, essv5907402, essv5430533, essv5989875, essv6528795, essv6462865, essv5573221, essv6323856, essv6230794, essv5612597, essv6486486, essv5840046, essv6462897, essv5759571, essv6246368, essv6016994, essv5396396, essv6237758, essv5605799, essv6018097, essv5675304, essv6241836, essv5806254, essv5897291, essv5515871, essv5573100, essv6305429, essv5923156, essv6135598, essv6016246, essv5951180, essv6248565, essv5602103, essv5984824, essv5516261, essv5435982, essv6439327, essv5690511, essv6130027, essv6149663
SamplesNA19394, NA19466, NA19332, NA19350, NA19359, NA19393, NA19377, NA19443, NA19374, NA19396, NA19381, NA19373, NA19379, NA19382, NA19448, NA19457, NA19313, NA19384, NA19404, NA19383, NA19372, NA19371, NA19471, NA19317, NA19445, NA19462, NA19347, NA19391, NA19461, NA19449, NA19453, NA19338, NA19452, NA19469, NA19436, NA19401, NA19375, NA19440, NA19434, NA19473, NA19435, NA19334, NA19470, NA19311, NA19467, NA19360, NA19398, NA19328, NA19438, NA19472, NA19468, NA19474, NA19430, NA19316, NA19312, NA19463, NA19429, NA19346, NA19431
Known GenesFIGNL2
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2659984
Frequency
Sample Size1151
Observed Gain0
Observed Loss59
Observed Complex0
Frequencyn/a


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