A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2758106



Internal ID9633565
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:16970429..17491855hg38UCSC Ensembl
Innerchr7:17010053..17531479hg19UCSC Ensembl
Innerchr7:16976578..17498004hg18UCSC Ensembl
Innerchr7:16783293..17304719hg17UCSC Ensembl
Cytoband7p21.1
Allele length
AssemblyAllele length
hg38521427
hg19521427
hg18521427
hg17521427
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsesv2759515
Supporting Variantsessv1413
SamplesNA19007
Known GenesAHR
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)esv2758106
Frequency
Sample Size270
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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