A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2758518



Internal ID9633977
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr20:30184894..30419232hg38UCSC Ensembl
Innerchr20:29419570..29653908hg19UCSC Ensembl
Innerchr20:28033231..28267569hg18UCSC Ensembl
Innerchr20:28033231..28267569hg17UCSC Ensembl
Cytoband20q11.1
Allele length
AssemblyAllele length
hg38234339
hg19234339
hg18234339
hg17234339
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsesv2758791
Supporting Variantsessv6982, essv12825, essv9933, essv9368, essv5381, essv7774, essv691, essv380, essv1911, essv5535, essv2035, essv2174, essv4866, essv23931, essv15064, essv21311, essv7600, essv1355, essv20912, essv15655, essv21706
SamplesNA12814, NA19145, NA18545, NA12801, NA12248, NA18563, NA18960, NA18949, NA18975, NA19007, NA19120, NA12878, NA18529, NA18976, NA18912, NA18853, NA18542, NA18540, NA18971, NA19129, NA18612
Known GenesFRG1B, MLLT10P1
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)esv2758518
Frequency
Sample Size270
Observed Gain19
Observed Loss2
Observed Complex0
Frequencyn/a


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