A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2758707



Internal ID9980852
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:81152631..81345362hg38UCSC Ensembl
Innerchr17:79126431..79319162hg19UCSC Ensembl
Innerchr17:76741026..76933757hg18UCSC Ensembl
Innerchr17:76741026..76933757hg17UCSC Ensembl
Cytoband17q25.3
Allele length
AssemblyAllele length
hg38192732
hg19192732
hg18192732
hg17192732
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv2758467
SamplesNA18524, NA18999, NA18545, NA18944, NA19210, NA19152, NA19094, NA19093
Known GenesAATK, AATK-AS1, AZI1, C17orf89, ENTHD2, LINC00482, SLC38A10, TMEM105
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)esv2758707
Frequency
Sample Size270
Observed Gain8
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer