A curated catalogue of human genomic structural variation
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Variant Details
Variant: dgv729e214
Internal ID
20122152
Landmark
Location Information
Type
Coordinates
Assembly
Other Links
chr2:110139413..110160345
hg38
UCSC
Ensembl
chr2:110896990..110917922
hg19
UCSC
Ensembl
Cytoband
2q13
Allele length
Assembly
Allele length
hg38
20933
hg19
20933
Variant Type
CNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged Status
M
Merged Variants
Supporting Variants
esv3591958
,
esv3591959
Samples
HG03812, HG04222, HG01815, HG03607, HG03950, HG00337, NA19068, HG03736, HG01843, HG00851, NA18966, HG03693, HG02180, HG02513, HG01879, HG04235, NA19042, HG01915, HG00638, HG03702, NA18629, HG02371, HG02373, HG02079, HG04098, NA20758, NA20827
Known Genes
NPHP1
Method
Sequencing
Analysis
Platform
Multiple platforms
Comments
Reference
1000_Genomes_Consortium_Phase_3
Pubmed ID
21293372
Accession Number(s)
dgv729e214
Frequency
Sample Size
2504
Observed Gain
27
Observed Loss
0
Observed Complex
0
Frequency
n/a
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