A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2758110



Internal ID9633569
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:29618321..29895756hg38UCSC Ensembl
Innerchr7:29657937..29935372hg19UCSC Ensembl
Innerchr7:29624462..29901897hg18UCSC Ensembl
Innerchr7:29431177..29708612hg17UCSC Ensembl
Cytoband7p14.3
Allele length
AssemblyAllele length
hg38277436
hg19277436
hg18277436
hg17277436
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsesv2759521
Supporting Variantsessv4481
SamplesNA18552
Known GenesDPY19L2P3, LOC646762, MIR550A3, WIPF3, ZNRF2P2
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)esv2758110
Frequency
Sample Size270
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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