A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2758097



Internal ID9633556
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:170272663..170523675hg38UCSC Ensembl
Innerchr6:170581751..170832763hg19UCSC Ensembl
Innerchr6:170423676..170674688hg18UCSC Ensembl
Innerchr6:170499383..170750395hg17UCSC Ensembl
Cytoband6q27
Allele length
AssemblyAllele length
hg38251013
hg19251013
hg18251013
hg17251013
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsesv2759497
Supporting Variantsessv14594, essv20351, essv23575, essv4707, essv24707, essv14781, essv22776, essv13430, essv24, essv18974, essv10520, essv19683, essv10283, essv22093
SamplesNA11829, NA12236, NA19192, NA12005, NA07019, NA19159, NA18991, NA12264, NA19240, NA19093, NA18506, NA12006, NA12154, NA18622
Known GenesDLL1, FAM120B, FLJ38122, MIR4644
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)esv2758097
Frequency
Sample Size270
Observed Gain13
Observed Loss1
Observed Complex0
Frequencyn/a


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