A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10742



Internal ID9607828
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:173841504..173986805hg38UCSC Ensembl
Innerchr1:173810642..173955943hg19UCSC Ensembl
Innerchr1:172077265..172222566hg18UCSC Ensembl
Innerchr1:170542299..170687600hg17UCSC Ensembl
Cytoband1q25.1
Allele length
AssemblyAllele length
hg38145302
hg19145302
hg18145302
hg17145302
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2757761
Supporting Variants
SamplesNA18523
Known GenesDARS2, GAS5, GAS5-AS1, RC3H1, SERPINC1, SNORD44, SNORD47, SNORD74, SNORD75, SNORD76, SNORD77, SNORD78, SNORD79, SNORD80, SNORD81, ZBTB37
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)essv10742
Frequency
Sample Size270
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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