A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6338



Internal ID9628127
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:144045427..144344825hg38UCSC Ensembl
Innerchr7:143742520..144041918hg19UCSC Ensembl
Innerchr7:143373453..143672851hg18UCSC Ensembl
Innerchr7:143180168..143479566hg17UCSC Ensembl
Cytoband7q35
Allele length
AssemblyAllele length
hg38299399
hg19299399
hg18299399
hg17299399
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2758138
Supporting Variants
SamplesNA18609
Known GenesARHGEF34P, ARHGEF35, CTAGE4, CTAGE8, OR2A1, OR2A12, OR2A14, OR2A2, OR2A20P, OR2A25, OR2A42, OR2A5, OR2A7, OR2A9P, RNU6-57P
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)essv6338
Frequency
Sample Size270
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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