A curated catalogue of human genomic structural variation




Variant Details

Variant: essv18439



Internal ID9956605
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:83671190..83830796hg38UCSC Ensembl
Innerchr7:83300506..83460112hg19UCSC Ensembl
Innerchr7:83138442..83298048hg18UCSC Ensembl
Innerchr7:82945157..83104763hg17UCSC Ensembl
Cytoband7q21.11
Allele length
AssemblyAllele length
hg38159607
hg19159607
hg18159607
hg17159607
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2758122
Supporting Variants
SamplesNA11831
Known Genes
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)essv18439
Frequency
Sample Size270
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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