A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2757925



Internal ID9980002
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:22009958..22229095hg38UCSC Ensembl
Innerchr4:22011581..22230718hg19UCSC Ensembl
Innerchr4:21620679..21839816hg18UCSC Ensembl
Innerchr4:21687850..21906987hg17UCSC Ensembl
Cytoband4p15.2
Allele length
AssemblyAllele length
hg38219138
hg19219138
hg18219138
hg17219138
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsesv2759232
Supporting Variantsessv23582, essv12649, essv23044, essv13422, essv20400, essv10836, essv6217, essv7861, essv7707, essv15644, essv24129, essv22585, essv5482
SamplesNA18633, NA19192, NA12812, NA18558, NA10847, NA18871, NA10830, NA18912, NA18632, NA07348, NA18636, NA18500, NA12006
Known Genes
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)esv2757925
Frequency
Sample Size270
Observed Gain0
Observed Loss13
Observed Complex0
Frequencyn/a


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