A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2758617



Internal ID9634076
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:150554861..150766716hg38UCSC Ensembl
Innerchr7:150251949..150463804hg19UCSC Ensembl
Innerchr7:149882882..150094737hg18UCSC Ensembl
Innerchr7:149689597..149901452hg17UCSC Ensembl
Cytoband7q36.1
Allele length
AssemblyAllele length
hg38211856
hg19211856
hg18211856
hg17211856
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsesv2759573
Supporting Variantsessv1530
SamplesNA18980
Known GenesGIMAP1, GIMAP1-GIMAP5, GIMAP2, GIMAP4, GIMAP5, GIMAP6
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)esv2758617
Frequency
Sample Size270
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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