A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3591952



Internal ID6632236
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:110095276..110225397hg38UCSC Ensembl
chr2:110852853..110982974hg19UCSC Ensembl
Cytoband2q13
Allele length
AssemblyAllele length
hg38130122
hg19130122
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv728e214
Supporting Variantsessv10615176, essv10615182, essv10615185, essv10615181, essv10615170, essv10615172, essv10615178, essv10615161, essv10615164, essv10615179, essv10615175, essv10615162, essv10615169, essv10615167, essv10615183, essv10615166, essv10615160, essv10615177, essv10615168, essv10615180, essv10615174, essv10615165, essv10615171, essv10615163, essv10615173, essv10615184
SamplesHG03812, HG04222, HG01815, HG03607, HG03950, HG00337, NA19068, HG03736, HG01843, HG00851, NA18966, HG03693, HG02180, HG02513, HG01879, HG04235, NA19042, HG01915, HG00638, HG03702, NA18629, HG02371, HG02373, HG02079, HG04098, NA20827
Known GenesLINC00116, MALL, NPHP1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3591952
Frequency
Sample Size2504
Observed Gain26
Observed Loss0
Observed Complex0
Frequencyn/a


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