A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7030164



Internal ID10016604
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:143885592..144124407hg38UCSC Ensembl
Innerchr4:144806745..145045560hg19UCSC Ensembl
Innerchr4:145026195..145265010hg18UCSC Ensembl
Cytoband4q31.21
Allele length
AssemblyAllele length
hg38238816
hg19238816
hg18238816
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2763856
Supporting Variants
SamplesSW_1068
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)essv7030164
Frequency
Sample Size1109
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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