A curated catalogue of human genomic structural variation
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Variant Details
Variant: esv2759975
Internal ID
9982120
Landmark
Location Information
Type
Coordinates
Assembly
Other Links
Inner
chr14:25758674..25935912
hg38
UCSC
Ensembl
Inner
chr14:26227880..26405118
hg19
UCSC
Ensembl
Inner
chr14:25297720..25474958
hg18
UCSC
Ensembl
Inner
chr14:25297720..25474958
hg17
UCSC
Ensembl
Cytoband
14q12
Allele length
Assembly
Allele length
hg38
177239
hg19
177239
hg18
177239
hg17
177239
Variant Type
CNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged Status
M
Merged Variants
Supporting Variants
esv2758350
Samples
NA18547, NA07048, NA10831, NA19161, NA18976, NA18981, NA12264, NA12707, NA18945, NA11882, NA10859, NA19129, NA18624, NA07034, NA18620
Known Genes
Method
BAC aCGH
Analysis
Array images were acquired using an Agilent laser scanner (Agilent Technologies, UK). Fluorescence intensities and log2 ratio values were extracted using Bluefuse software (Bluegnome Ltd).
Platform
Agilent
Comments
Reference
Redon_et_al_2006
Pubmed ID
17122850
Accession Number(s)
esv2759975
Frequency
Sample Size
270
Observed Gain
15
Observed Loss
0
Observed Complex
0
Frequency
n/a
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