A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7030163



Internal ID10009771
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:143882217..144126461hg38UCSC Ensembl
Innerchr4:144803370..145047614hg19UCSC Ensembl
Innerchr4:145022820..145267064hg18UCSC Ensembl
Cytoband4q31.21
Allele length
AssemblyAllele length
hg38244245
hg19244245
hg18244245
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2763856
Supporting Variants
SamplesSW_0507
Known GenesGYPA, GYPB, GYPE
MethodMerging
AnalysisTwo different algorithms (PennCNV and Birdseye) were applied to detect CNVs. Only congruent CNV events regarding direction of effect that were detected by both algorithms were merged using the outer borders of the event in a first step. In a second step only CNVs that were detected in at least two individuals were merged into a CNVR.
PlatformMerging
Comments
ReferenceVogler_et_al_2010
Pubmed ID21179565
Accession Number(s)essv7030163
Frequency
Sample Size1109
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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