A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7011847



Internal ID10000737
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:143859303..144073917hg38UCSC Ensembl
Innerchr4:144780456..144995070hg19UCSC Ensembl
Innerchr4:144999906..145214520hg18UCSC Ensembl
Cytoband4q31.21
Allele length
AssemblyAllele length
hg38214615
hg19214615
hg18214615
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2760865
Supporting Variants
SamplesRW_0564
Known GenesGYPB, 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)essv7011847
Frequency
Sample Size1109
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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