A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2757776



Internal ID9979853
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:234737579..234992216hg38UCSC Ensembl
Innerchr1:234873326..235127963hg19UCSC Ensembl
Innerchr1:232939949..233194586hg18UCSC Ensembl
Innerchr1:231180061..231434698hg17UCSC Ensembl
Cytoband1q42.3
Allele length
AssemblyAllele length
hg38254638
hg19254638
hg18254638
hg17254638
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsesv2759005
Supporting Variantsessv7309, essv9689, essv24409, essv7150, essv12262, essv14394, essv15277, essv4953, essv4293, essv16420, essv6697, essv11108, essv8106
SamplesNA18507, NA18603, NA18547, NA18637, NA12707, NA19101, NA18570, NA18608, NA19094, NA19206, NA18913, NA19211, NA19139
Known Genes
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)esv2757776
Frequency
Sample Size270
Observed Gain6
Observed Loss7
Observed Complex0
Frequencyn/a


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