A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15895



Internal ID9978503
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:75521219..75722063hg38UCSC Ensembl
Innerchr1:75986904..76187748hg19UCSC Ensembl
Innerchr1:75759492..75960336hg18UCSC Ensembl
Innerchr1:75698925..75899769hg17UCSC Ensembl
Cytoband1p31.1
Allele length
AssemblyAllele length
hg38200845
hg19200845
hg18200845
hg17200845
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2757737
Supporting Variants
SamplesNA19223
Known GenesSLC44A5
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)essv15895
Frequency
Sample Size270
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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