A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3591958



Internal ID6979286
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:110139413..110160345hg38UCSC Ensembl
chr2:110896990..110917922hg19UCSC Ensembl
Cytoband2q13
Allele length
AssemblyAllele length
hg3820933
hg1920933
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv729e214
Supporting Variantsessv10615301, essv10615296, essv10615284, essv10615295, essv10615289, essv10615285, essv10615304, essv10615280, essv10615299, essv10615293, essv10615287, essv10615303, essv10615288, essv10615300, essv10615297, essv10615294, essv10615282, essv10615298, essv10615291, essv10615305, essv10615286, essv10615290, essv10615281, essv10615302, essv10615292, essv10615283
SamplesHG03812, HG04222, HG01815, HG03607, HG03950, HG00337, NA19068, HG03736, HG01843, HG00851, NA18966, HG03693, HG02180, HG02513, HG04235, NA19042, HG01915, HG00638, HG03702, NA18629, HG02371, HG02373, HG02079, HG04098, NA20758, NA20827
Known GenesNPHP1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3591958
Frequency
Sample Size2504
Observed Gain26
Observed Loss0
Observed Complex0
Frequencyn/a


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