A curated catalogue of human genomic structural variation




Variant Details

Variant: essv68



Internal ID9628639
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:137138391..137252201hg38UCSC Ensembl
Innerchr6:137459528..137573338hg19UCSC Ensembl
Innerchr6:137501221..137615031hg18UCSC Ensembl
Innerchr6:137501221..137615031hg17UCSC Ensembl
Cytoband6q23.3
Allele length
AssemblyAllele length
hg38113811
hg19113811
hg18113811
hg17113811
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2758082
Supporting Variants
SamplesNA18991
Known GenesIFNGR1, IL22RA2
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)essv68
Frequency
Sample Size270
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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