A curated catalogue of human genomic structural variation




Variant Details

Variant: essv3103



Internal ID9624534
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:72446485..72907861hg38UCSC Ensembl
Innerchr7:71911470..72378398hg19UCSC Ensembl
Innerchr7:71549406..72016334hg18UCSC Ensembl
Innerchr7:71356121..71823049hg17UCSC Ensembl
Cytoband7q11.22
Allele length
AssemblyAllele length
hg38461377
hg19466929
hg18466929
hg17466929
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2758612
Supporting Variants
SamplesNA18969
Known GenesMIR4650-1, MIR4650-2, POM121, SBDSP1, SPDYE7P, TYW1B
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)essv3103
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