A curated catalogue of human genomic structural variation




Variant Details

Variant: essv22330



Internal ID9620704
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:568061..775274hg38UCSC Ensembl
Innerchr6:568061..775274hg19UCSC Ensembl
Innerchr6:513061..720274hg18UCSC Ensembl
Innerchr6:513061..720274hg17UCSC Ensembl
Cytoband6p25.3
Allele length
AssemblyAllele length
hg38207214
hg19207214
hg18207214
hg17207214
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2758034
Supporting Variants
SamplesNA06985
Known GenesEXOC2, HUS1B
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)essv22330
Frequency
Sample Size270
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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