A curated catalogue of human genomic structural variation
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Variant Details
Variant: esv2759568
Internal ID
9635027
Landmark
Location Information
Type
Coordinates
Assembly
Other Links
Inner
chr7:142010611..142229156
hg38
UCSC
Ensembl
Inner
chr7:141710411..141928956
hg19
UCSC
Ensembl
Inner
chr7:141356880..141575430
hg18
UCSC
Ensembl
Inner
chr7:141163595..141382145
hg17
UCSC
Ensembl
Cytoband
7q34
Allele length
Assembly
Allele length
hg38
218546
hg19
218546
hg18
218551
hg17
218551
Variant Type
CNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged Status
M
Merged Variants
Supporting Variants
esv2758136
Samples
NA11829, NA12814, NA18563, NA10846, NA06993, NA18949, NA11993, NA18951, NA12234, NA11840, NA10830, NA12144, NA19003, NA18978, NA06991, NA12864, NA12873, NA07056, NA12154
Known Genes
LOC93432
,
MGAM
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)
esv2759568
Frequency
Sample Size
270
Observed Gain
1
Observed Loss
18
Observed Complex
0
Frequency
n/a
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