A curated catalogue of human genomic structural variation




Variant Details

Variant: essv20100



Internal ID9954549
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:4552984..4707020hg38UCSC Ensembl
Innerchr7:4592615..4746651hg19UCSC Ensembl
Innerchr7:4559141..4713177hg18UCSC Ensembl
Innerchr7:4365856..4519892hg17UCSC Ensembl
Cytoband7p22.1
Allele length
AssemblyAllele length
hg38154037
hg19154037
hg18154037
hg17154037
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2758101
Supporting Variants
SamplesNA07048
Known GenesFOXK1
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)essv20100
Frequency
Sample Size270
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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