A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2758713



Internal ID9634172
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr18:11897024..12076103hg38UCSC Ensembl
Innerchr18:11897023..12076102hg19UCSC Ensembl
Innerchr18:11887023..12066102hg18UCSC Ensembl
Innerchr18:11887023..12066102hg17UCSC Ensembl
Cytoband18p11.21
Allele length
AssemblyAllele length
hg38179080
hg19179080
hg18179080
hg17179080
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv2758470
SamplesNA19209, NA18542, NA18855, NA19159
Known GenesIMPA2, MPPE1
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)esv2758713
Frequency
Sample Size270
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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