A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2757966



Internal ID9980043
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:166970345..167269840hg38UCSC Ensembl
Innerchr4:167891496..168190991hg19UCSC Ensembl
Innerchr4:168128071..168427566hg18UCSC Ensembl
Innerchr4:168266226..168565721hg17UCSC Ensembl
Cytoband4q32.3
Allele length
AssemblyAllele length
hg38299496
hg19299496
hg18299496
hg17299496
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsesv2759300
Supporting Variantsessv15459
SamplesNA18505
Known GenesSPOCK3
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)esv2757966
Frequency
Sample Size270
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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