A curated catalogue of human genomic structural variation




Variant Details

Variant: essv22224



Internal ID9620586
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:26692991..27127935hg38UCSC Ensembl
Innerchr6:26693219..27095714hg19UCSC Ensembl
Innerchr6:26801198..27203693hg18UCSC Ensembl
Innerchr6:26801198..27203693hg17UCSC Ensembl
Cytoband6p22.1
Allele length
AssemblyAllele length
hg38434945
hg19402496
hg18402496
hg17402496
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2758038
Supporting Variants
SamplesNA12044
Known GenesGUSBP2, LINC00240, LOC100270746
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)essv22224
Frequency
Sample Size270
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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