A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv728e214



Internal ID20122151
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 Variants
Supporting Variantsesv3591951, esv3591954, esv3591952
SamplesHG02371, NA20278, NA18966, HG01944, HG03693, HG02513, HG01915, HG03812, HG01843, HG04076, HG04098, HG03736, HG00337, NA19068, HG00638, HG02373, HG01815, HG01879, HG04222, NA19042, HG03870, HG00851, HG02180, HG04235, NA20827, HG03702, HG02079, HG03607, NA20758, HG03950, NA18629, NA18553
Known GenesLINC00116, MALL, NPHP1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)dgv728e214
Frequency
Sample Size2504
Observed Gain32
Observed Loss0
Observed Complex0
Frequencyn/a


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