A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7011220



Internal ID10002836
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:70103270..70117337hg38UCSC Ensembl
Innerchr4:70968987..70983054hg19UCSC Ensembl
Innerchr4:71003576..71017643hg18UCSC Ensembl
Cytoband4q13.3
Allele length
AssemblyAllele length
hg3814068
hg1914068
hg1814068
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2760880
Supporting Variants
SamplesRW_0616
Known Genes
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)essv7011220
Frequency
Sample Size1109
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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