A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2758130



Internal ID9980207
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:111160855..111664769hg38UCSC Ensembl
Innerchr7:110800911..111304825hg19UCSC Ensembl
Innerchr7:110588147..111092061hg18UCSC Ensembl
Innerchr7:110394862..110898776hg17UCSC Ensembl
Cytoband7q31.1
Allele length
AssemblyAllele length
hg38503915
hg19503915
hg18503915
hg17503915
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsesv2759555
Supporting Variantsessv18226, essv6757, essv21989, essv2096
SamplesNA11995, NA18949, NA12057, NA18562
Known GenesIMMP2L
MethodBAC aCGH
AnalysisArray images were acquired using an Agilent laser scanner (Agilent Technologies, UK). Fluorescence intensities and log2 ratio values were extracted using Bluefuse software (Bluegnome Ltd).
PlatformAgilent
Comments
ReferenceRedon_et_al_2006
Pubmed ID17122850
Accession Number(s)esv2758130
Frequency
Sample Size270
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer