A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3594842



Internal ID6982161
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:241797585..241808039hg38UCSC Ensembl
chr2:242737000..242749098hg19UCSC Ensembl
Cytoband2q37.3
Allele length
AssemblyAllele length
hg3810455
hg1912099
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10894921, essv10894925, essv10894918, essv10894941, essv10894945, essv10894933, essv10894958, essv10894957, essv10894948, essv10894943, essv10894959, essv10894934, essv10894951, essv10894954, essv10894935, essv10894939, essv10894952, essv10894922, essv10894950, essv10894924, essv10894953, essv10894919, essv10894928, essv10894937, essv10894955, essv10894947, essv10894936, essv10894923, essv10894926, essv10894932, essv10894949, essv10894920, essv10894930, essv10894929, essv10894927, essv10894938, essv10894944, essv10894931, essv10894942, essv10894956, essv10894940, essv10894946
SamplesNA19701, NA19794, NA18647, NA19734, NA19920, HG02140, HG02485, HG02087, HG01277, NA19307, HG02301, NA18642, HG00355, NA21108, HG00130, NA18749, NA18748, NA12815, HG02138, NA18640, NA21106, NA18747, NA21119, NA19086, NA19184, HG02084, HG02508, NA18757, NA19031, NA19001, NA19752, NA19095, NA19012, NA19308, HG02089, NA19309, NA18535, NA19735, NA19310, NA18643, NA18740, NA18997
Known GenesGAL3ST2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3594842
Frequency
Sample Size2504
Observed Gain42
Observed Loss0
Observed Complex0
Frequencyn/a


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