A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2758539



Internal ID9633998
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:24970834..25560940hg38UCSC Ensembl
Innerchr22:25366801..25956907hg19UCSC Ensembl
Innerchr22:23696801..24286907hg18UCSC Ensembl
Innerchr22:23691355..24281461hg17UCSC Ensembl
Cytoband22q11.23
Allele length
AssemblyAllele length
hg38590107
hg19590107
hg18590107
hg17590107
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsesv2758829
Supporting Variantsessv7864, essv24234, essv11851, essv7775, essv21235, essv10987, essv16412, essv22412, essv23412, essv24403, essv22657, essv15835, essv12286, essv9591, essv6146, essv14372, essv791, essv5452, essv16687, essv24874, essv22344, essv21848, essv22459, essv21036, essv24005, essv10061, essv21984
SamplesNA19141, NA11830, NA11995, NA18507, NA10854, NA18558, NA19138, NA12761, NA12752, NA18956, NA11839, NA19221, NA19142, NA18532, NA19099, NA12707, NA06985, NA10856, NA18632, NA18542, NA06991, NA12716, NA10861, NA19143, NA19223, NA19139, NA07000
Known GenesCRYBB2, CRYBB2P1, CRYBB3, IGLL3P, KIAA1671, LOC100128531, LRP5L, MIR6817
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)esv2758539
Frequency
Sample Size270
Observed Gain17
Observed Loss10
Observed Complex0
Frequencyn/a


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