A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2758112



Internal ID9633571
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:38179101..38483855hg38UCSC Ensembl
Innerchr7:38218703..38523455hg19UCSC Ensembl
Innerchr7:38185228..38489980hg18UCSC Ensembl
Innerchr7:37991943..38296695hg17UCSC Ensembl
Cytoband7p14.1
Allele length
AssemblyAllele length
hg38304755
hg19304753
hg18304753
hg17304753
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsesv2759524
Supporting Variantsessv22939
SamplesNA07357
Known GenesAMPH, STARD3NL, TARP, TRG-AS1
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)esv2758112
Frequency
Sample Size270
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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