A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2759252



Internal ID9981397
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:51793952..51971936hg38UCSC Ensembl
Innerchr4:52660118..52838102hg19UCSC Ensembl
Innerchr4:52354875..52532859hg18UCSC Ensembl
Innerchr4:52501046..52679030hg17UCSC Ensembl
Cytoband4q11
Allele length
AssemblyAllele length
hg38177985
hg19177985
hg18177985
hg17177985
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv2757935
SamplesNA19222, NA19204, NA18861, NA12236, NA18603, NA12751, NA18545, NA18504, NA19098, NA18967, NA19201, NA19119, NA19131, NA18942, NA19138, NA18949, NA18611, NA12761, NA12005, NA19207, NA19128, NA19209, NA12752, NA19120, NA12003, NA10863, NA10831, NA18859, NA19205, NA10838, NA19208, NA19221, NA18537, NA18573, NA12264, NA19101, NA18555, NA06985, NA18523, NA19132, NA18608, NA18953, NA19094, NA11882, NA06991, NA10859, NA19240, NA19100, NA19144, NA07348, NA18501, NA12740, NA19223, NA19211, NA19093, NA18636, NA18506, NA18854, NA18972, NA18872, NA18624, NA19139, NA12154, NA18612, NA18620
Known GenesDCUN1D4
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)esv2759252
Frequency
Sample Size270
Observed Gain65
Observed Loss0
Observed Complex0
Frequencyn/a


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