A curated catalogue of human genomic structural variation
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Variant Details
Variant: esv2759215
Internal ID
9981360
Landmark
Location Information
Type
Coordinates
Assembly
Other Links
Inner
chr3:198045544..198235559
hg38
UCSC
Ensembl
Inner
chr3:197772415..197962430
hg19
UCSC
Ensembl
Inner
chr3:199256812..199446827
hg18
UCSC
Ensembl
Inner
chr3:199260725..199450740
hg17
UCSC
Ensembl
Cytoband
3q29
Allele length
Assembly
Allele length
hg38
190016
hg19
190016
hg18
190016
hg17
190016
Variant Type
CNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged Status
M
Merged Variants
Supporting Variants
esv2757915
Samples
NA12814, NA18855, NA07357, NA19128, NA19209, NA19120, NA19194, NA19202, NA19154, NA18853, NA19099, NA19101, NA18523, NA19206, NA19100, NA19223, NA19211, NA18505
Known Genes
ANKRD18DP
,
FAM157A
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)
esv2759215
Frequency
Sample Size
270
Observed Gain
18
Observed Loss
0
Observed Complex
0
Frequency
n/a
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