A curated catalogue of human genomic structural variation
About the Project
Genome Browser
Downloads
Query Tool
Links
Submissions
Statistics
Contact Us
FAQ
Training Resources
Variant Details
Variant: esv2758936
Internal ID
9634395
Landmark
Location Information
Type
Coordinates
Assembly
Other Links
Inner
chr1:53452879..53563563
hg38
UCSC
Ensembl
Inner
chr1:53918552..54029236
hg19
UCSC
Ensembl
Inner
chr1:53691140..53801824
hg18
UCSC
Ensembl
Inner
chr1:53630573..53741257
hg17
UCSC
Ensembl
Cytoband
1p32.3
Allele length
Assembly
Allele length
hg38
110685
hg19
110685
hg18
110685
hg17
110685
Variant Type
CNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged Status
M
Merged Variants
Supporting Variants
esv2757732
Samples
NA12814, NA18545, NA12248, NA19192, NA18995, NA18558, NA18571, NA18949, NA18970, NA19205, NA10838, NA12234, NA10830, NA18912, NA18853, NA07348, NA18636, NA18500, NA18854, NA18872
Known Genes
DMRTB1
,
GLIS1
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)
esv2758936
Frequency
Sample Size
270
Observed Gain
0
Observed Loss
20
Observed Complex
0
Frequency
n/a
Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage
disclaimer