A curated catalogue of human genomic structural variation
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Variant Details
Variant: esv2759722
Internal ID
9635181
Landmark
Location Information
Type
Coordinates
Assembly
Other Links
Inner
chr9:137991111..138262981
hg38
UCSC
Ensembl
Inner
chr9:140885563..141153431
hg19
UCSC
Ensembl
Inner
chr9:140005384..140273252
hg18
UCSC
Ensembl
Inner
chr9:138161400..138429268
hg17
UCSC
Ensembl
Cytoband
9q34.3
Allele length
Assembly
Allele length
hg38
271871
hg19
267869
hg18
267869
hg17
267869
Variant Type
CNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged Status
M
Merged Variants
Supporting Variants
esv2758206
Samples
NA19141, NA19203, NA19204, NA18508, NA12814, NA18855, NA07357, NA19131, NA19159, NA19209, NA19194, NA19205, NA19103, NA12234, NA19142, NA19154, NA18853, NA19101, NA19132, NA10856, NA19206, NA18501, NA19211, NA18500, NA18506, NA19153, NA18620
Known Genes
CACNA1B
,
FAM157B
,
TUBBP5
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)
esv2759722
Frequency
Sample Size
270
Observed Gain
27
Observed Loss
0
Observed Complex
0
Frequency
n/a
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