A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2758920



Internal ID9634379
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:10178012..10522497hg38UCSC Ensembl
Innerchr1:10238070..10582554hg19UCSC Ensembl
Innerchr1:10160657..10505141hg18UCSC Ensembl
Innerchr1:10172336..10516820hg17UCSC Ensembl
Cytoband1p36.22
Allele length
AssemblyAllele length
hg38344486
hg19344485
hg18344485
hg17344485
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv2757722
SamplesNA18965, NA18912, NA19130
Known GenesAPITD1, APITD1-CORT, CORT, DFFA, KIF1B, PEX14, 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)esv2758920
Frequency
Sample Size270
Observed Gain1
Observed Loss2
Observed Complex0
Frequencyn/a


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