A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12681



Internal ID9609982
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:143450682..143870527hg38UCSC Ensembl
Innerchr7:143147775..143567620hg19UCSC Ensembl
Innerchr7:142857897..143198553hg18UCSC Ensembl
Innerchr7:142664612..143005268hg17UCSC Ensembl
Cytoband7q35
Allele length
AssemblyAllele length
hg38419846
hg19419846
hg18340657
hg17340657
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2758138
Supporting Variants
SamplesNA18500
Known GenesCTAGE15, CTAGE6, EPHA1-AS1, FAM115A, FAM115C, LOC154761, 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)essv12681
Frequency
Sample Size270
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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