A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2758242



Internal ID9633701
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:122503559..122695299hg38UCSC Ensembl
Innerchr10:124263075..124454815hg19UCSC Ensembl
Innerchr10:124253065..124444805hg18UCSC Ensembl
Innerchr10:124253065..124444805hg17UCSC Ensembl
Cytoband10q26.13
Allele length
AssemblyAllele length
hg38191741
hg19191741
hg18191741
hg17191741
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsesv2759786
Supporting Variantsessv10943, essv247, essv13718, essv12852, essv1629, essv5378, essv3067, essv5108, essv4814, essv11572, essv7388, essv10101, essv8196, essv17083, essv19677, essv14425, essv4198, essv17806, essv313, essv8859, essv430, essv5829, essv778
SamplesNA18508, NA18526, NA18563, NA19201, NA19119, NA18942, NA19130, NA19172, NA19209, NA19120, NA10831, NA18956, NA18948, NA18981, NA18566, NA12264, NA18978, NA18952, NA19173, NA19116, NA18623, NA18577, NA18620
Known GenesDMBT1, HTRA1
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)esv2758242
Frequency
Sample Size270
Observed Gain10
Observed Loss13
Observed Complex0
Frequencyn/a


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