A curated catalogue of human genomic structural variation




Variant Details

Variant: essv20274



Internal ID9618419
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:69778293..70865721hg38UCSC Ensembl
Innerchr5:69074120..70161548hg19UCSC Ensembl
Innerchr5:69109876..70197304hg18UCSC Ensembl
Innerchr5:69109876..70197304hg17UCSC Ensembl
Cytoband5q13.2
Allele length
AssemblyAllele length
hg381087429
hg191087429
hg181087429
hg171087429
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2757998
Supporting Variants
SamplesNA12144
Known GenesGTF2H2B, GTF2H2C, GTF2H2D, GUSBP9, LOC441081, SERF1A, SERF1B, SMA4, SMA5, SMN1, SMN2
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)essv20274
Frequency
Sample Size270
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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