A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2757918



Internal ID9633377
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:3392617..4349259hg38UCSC Ensembl
Innerchr4:3394344..4350986hg19UCSC Ensembl
Innerchr4:3364142..4401887hg18UCSC Ensembl
Innerchr4:3431313..4469058hg17UCSC Ensembl
Cytoband4p16.2
Allele length
AssemblyAllele length
hg38956643
hg19956643
hg181037746
hg171037746
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsesv2759219
Supporting Variantsessv879, essv1820
SamplesNA18976, NA19000
Known GenesADRA2C, DOK7, FAM86EP, HGFAC, LINC00955, LOC100133461, LRPAP1, LYAR, OTOP1, RGS12, TMEM128, ZBTB49
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)esv2757918
Frequency
Sample Size270
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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