A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2759719



Internal ID9981864
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr9:133566479..133590567hg38UCSC Ensembl
Innerchr9:136431601..136455689hg19UCSC Ensembl
Innerchr9:135421422..135445510hg18UCSC Ensembl
Innerchr9:133461155..133485243hg17UCSC Ensembl
Cytoband9q34.2
Allele length
AssemblyAllele length
hg3824089
hg1924089
hg1824089
hg1724089
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv2758203
SamplesNA18563, NA07048, NA18612
Known GenesADAMTSL2, FAM163B
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)esv2759719
Frequency
Sample Size270
Observed Gain2
Observed Loss1
Observed Complex0
Frequencyn/a


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