A curated catalogue of human genomic structural variation




Variant Details

Variant: essv3548



Internal ID9625027
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:10389386..10522497hg38UCSC Ensembl
Innerchr1:10449443..10582554hg19UCSC Ensembl
Innerchr1:10372030..10505141hg18UCSC Ensembl
Innerchr1:10383709..10516820hg17UCSC Ensembl
Cytoband1p36.22
Allele length
AssemblyAllele length
hg38133112
hg19133112
hg18133112
hg17133112
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2757722
Supporting Variants
SamplesNA18965
Known GenesAPITD1, APITD1-CORT, CORT, DFFA, PEX14, PGD
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)essv3548
Frequency
Sample Size270
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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