A curated catalogue of human genomic structural variation




Variant Details

Variant: essv4004



Internal ID9625535
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:143450682..143965323hg38UCSC Ensembl
Innerchr7:143147775..143662416hg19UCSC Ensembl
Innerchr7:142857897..143293349hg18UCSC Ensembl
Innerchr7:142664612..143100064hg17UCSC Ensembl
Cytoband7q35
Allele length
AssemblyAllele length
hg38514642
hg19514642
hg18435453
hg17435453
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2758138
Supporting Variants
SamplesNA18970
Known GenesCTAGE15, CTAGE6, EPHA1-AS1, FAM115A, FAM115C, LOC154761, OR2F1, OR2F2, TAS2R41
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)essv4004
Frequency
Sample Size270
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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