A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10115



Internal ID9607132
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:10178012..10441691hg38UCSC Ensembl
Innerchr1:10238070..10501748hg19UCSC Ensembl
Innerchr1:10160657..10424335hg18UCSC Ensembl
Innerchr1:10172336..10436014hg17UCSC Ensembl
Cytoband1p36.22
Allele length
AssemblyAllele length
hg38263680
hg19263679
hg18263679
hg17263679
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2757722
Supporting Variants
SamplesNA19130
Known GenesAPITD1, APITD1-CORT, KIF1B, PGD, UBE4B
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)essv10115
Frequency
Sample Size270
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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