A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10673



Internal ID9607751
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:4922849..5374828hg38UCSC Ensembl
Innerchr16:4972850..5424829hg19UCSC Ensembl
Innerchr16:4912851..5364830hg18UCSC Ensembl
Innerchr16:4912851..5364830hg17UCSC Ensembl
Cytoband16p13.3
Allele length
AssemblyAllele length
hg38451980
hg19451980
hg18451980
hg17451980
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2758408
Supporting Variants
SamplesNA18855
Known GenesALG1, C16orf89, FAM86A, NAGPA, NAGPA-AS1, PPL, SEC14L5
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)essv10673
Frequency
Sample Size270
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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