A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2757952



Internal ID9980029
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:117557693..118753587hg38UCSC Ensembl
Innerchr4:118478848..119674742hg19UCSC Ensembl
Innerchr4:118698296..119894190hg18UCSC Ensembl
Innerchr4:118836451..120032345hg17UCSC Ensembl
Cytoband4q26
Allele length
AssemblyAllele length
hg381195895
hg191195895
hg181195895
hg171195895
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsesv2759279
Supporting Variantsessv23855, essv11621
SamplesNA07022, NA19154
Known GenesCEP170P1, LOC729218, METTL14, NDST3, PRSS12, SEC24D, SNHG8, SNORA24
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)esv2757952
Frequency
Sample Size270
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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