A curated catalogue of human genomic structural variation




Variant Details

Variant: essv21209



Internal ID9956538
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:7170280..7412482hg38UCSC Ensembl
Innerchr7:7209911..7452113hg19UCSC Ensembl
Innerchr7:7176436..7418638hg18UCSC Ensembl
Innerchr7:6983151..7225353hg17UCSC Ensembl
Cytoband7p21.3
Allele length
AssemblyAllele length
hg38242203
hg19242203
hg18242203
hg17242203
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2758102
Supporting Variants
SamplesNA11830
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)essv21209
Frequency
Sample Size270
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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