A curated catalogue of human genomic structural variation
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Variant Details
Variant: esv2758868
Internal ID
9634327
Landmark
Location Information
Type
Coordinates
Assembly
Other Links
Inner
chrX:57605940..57863974
hg38
UCSC
Ensembl
Inner
chrX:57632373..57890408
hg19
UCSC
Ensembl
Inner
chrX:57649098..57907133
hg18
UCSC
Ensembl
Inner
chrX:57515394..57773429
hg17
UCSC
Ensembl
Cytoband
Xp11.1
Allele length
Assembly
Allele length
hg38
258035
hg19
258036
hg18
258036
hg17
258036
Variant Type
CNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged Status
M
Merged Variants
Supporting Variants
esv2758570
Samples
NA19203, NA19145, NA19092, NA19098, NA19119, NA19130, NA19239, NA19120, NA19194, NA18859, NA19205, NA19101, NA19144, NA18501, NA19223, NA18500, NA18872, NA18522
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)
esv2758868
Frequency
Sample Size
270
Observed Gain
18
Observed Loss
0
Observed Complex
0
Frequency
n/a
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