A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2757732



Internal ID9633191
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:53452879..53563563hg38UCSC Ensembl
Innerchr1:53918552..54029236hg19UCSC Ensembl
Innerchr1:53691140..53801824hg18UCSC Ensembl
Innerchr1:53630573..53741257hg17UCSC Ensembl
Cytoband1p32.3
Allele length
AssemblyAllele length
hg38110685
hg19110685
hg18110685
hg17110685
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsesv2758936
Supporting Variantsessv16908, essv6235, essv1281, essv3947, essv19216, essv13482, essv15670, essv22593, essv6044, essv18625, essv1994, essv16791, essv9327, essv7523, essv12656, essv23892, essv7858, essv20362, essv13901, essv21735
SamplesNA12814, NA18545, NA12248, NA19192, NA18995, NA18558, NA18571, NA18949, NA18970, NA19205, NA10838, NA12234, NA10830, NA18912, NA18853, NA07348, NA18636, NA18500, NA18854, NA18872
Known GenesDMRTB1, GLIS1
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)esv2757732
Frequency
Sample Size270
Observed Gain0
Observed Loss20
Observed Complex0
Frequencyn/a


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