A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2758504



Internal ID9633963
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:51488642..51763447hg38UCSC Ensembl
Innerchr19:51991896..52266700hg19UCSC Ensembl
Innerchr19:56683708..56958512hg18UCSC Ensembl
Innerchr19:56683708..56958512hg17UCSC Ensembl
Cytoband19q13.33
Allele length
AssemblyAllele length
hg38274806
hg19274805
hg18274805
hg17274805
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsesv2758767
Supporting Variantsessv4577, essv5456, essv4234, essv3197, essv6589, essv7000, essv13837, essv10047, essv23869, essv4800, essv13598, essv374, essv23862, essv7093, essv17487
SamplesNA18621, NA19127, NA18612, NA18603, NA18524, NA18632, NA18854, NA12762, NA12814, NA18537, NA18620, NA18974, NA18971, NA19099, NA07022
Known GenesCEACAM18, FLJ30403, FPR1, FPR2, HAS1, MIR125A, MIR99B, MIRLET7E, SIGLEC12, SIGLEC14, SIGLEC5, SIGLEC6, SPACA6P, SPACA6P-AS, ZNF175
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)esv2758504
Frequency
Sample Size270
Observed Gain0
Observed Loss15
Observed Complex0
Frequencyn/a


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