A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3638244



Internal ID6678342
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:24194011..24203251hg38UCSC Ensembl
chr16:24205332..24214572hg19UCSC Ensembl
Cytoband16p12.1
Allele length
AssemblyAllele length
hg389241
hg199241
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv15429956, essv15429943, essv15429965, essv15429942, essv15429949, essv15429964, essv15429971, essv15429966, essv15429930, essv15429947, essv15429946, essv15429940, essv15429948, essv15429957, essv15429934, essv15429969, essv15429931, essv15429955, essv15429961, essv15429967, essv15429951, essv15429932, essv15429933, essv15429970, essv15429945, essv15429939, essv15429936, essv15429973, essv15429938, essv15429937, essv15429935, essv15429963, essv15429941, essv15429972, essv15429944, essv15429954, essv15429968, essv15429959, essv15429952, essv15429962, essv15429950, essv15429953, essv15429958, essv15429960
SamplesNA19137, HG02317, HG02854, HG03351, HG03479, HG02334, HG03129, HG02318, NA20299, NA20296, NA19317, NA19334, NA19920, NA19379, NA19320, HG03199, HG03394, HG03457, NA19383, NA20356, HG02577, HG01785, HG01965, HG03100, HG03126, NA19189, HG03511, HG03547, NA19098, HG02611, HG01260, NA19318, HG02484, NA19376, NA19035, NA19394, HG00262, HG03367, NA18499, NA18924, NA19118, HG03515, NA19448, HG01890
Known GenesPRKCB
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3638244
Frequency
Sample Size2504
Observed Gain44
Observed Loss0
Observed Complex0
Frequencyn/a


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