A curated catalogue of human genomic structural variation




Variant Details

Variant: essv2504



Internal ID9623714
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr15:40540346..40702913hg38UCSC Ensembl
Innerchr15:40832545..40995111hg19UCSC Ensembl
Innerchr15:38619837..38782403hg18UCSC Ensembl
Innerchr15:38619837..38782403hg17UCSC Ensembl
Cytoband15q15.1
Allele length
AssemblyAllele length
hg38162568
hg19162567
hg18162567
hg17162567
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2758378
Supporting Variants
SamplesNA19003
Known GenesC15orf57, CASC5, RAD51, RAD51-AS1, RPUSD2
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)essv2504
Frequency
Sample Size270
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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