A curated catalogue of human genomic structural variation




Variant Details

Variant: essv24125



Internal ID9622698
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:144042048..144344825hg38UCSC Ensembl
Innerchr7:143739141..144041918hg19UCSC Ensembl
Innerchr7:143370074..143672851hg18UCSC Ensembl
Innerchr7:143176789..143479566hg17UCSC Ensembl
Cytoband7q35
Allele length
AssemblyAllele length
hg38302778
hg19302778
hg18302778
hg17302778
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2758138
Supporting Variants
SamplesNA10847
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)essv24125
Frequency
Sample Size270
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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