A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2758102



Internal ID9980179
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:7170280..7454270hg38UCSC Ensembl
Innerchr7:7209911..7493901hg19UCSC Ensembl
Innerchr7:7176436..7460426hg18UCSC Ensembl
Innerchr7:6983151..7267141hg17UCSC Ensembl
Cytoband7p21.3
Allele length
AssemblyAllele length
hg38283991
hg19283991
hg18283991
hg17283991
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsesv2759505
Supporting Variantsessv9978, essv16157, essv21209
SamplesNA11830, NA19099, NA19100
Known GenesC1GALT1, COL28A1, LOC101927354
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)esv2758102
Frequency
Sample Size270
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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