A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2758100



Internal ID9633559
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:3246993..3520597hg38UCSC Ensembl
Innerchr7:3286625..3560229hg19UCSC Ensembl
Innerchr7:3253151..3526755hg18UCSC Ensembl
Innerchr7:3059866..3333470hg17UCSC Ensembl
Cytoband7p22.2
Allele length
AssemblyAllele length
hg38273605
hg19273605
hg18273605
hg17273605
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsesv2759500
Supporting Variantsessv11836, essv10425
SamplesNA19222, NA19221
Known GenesSDK1
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)esv2758100
Frequency
Sample Size270
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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