A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7027709



Internal ID10023871
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:128654829..128680378hg38UCSC Ensembl
Innerchr3:128373672..128399221hg19UCSC Ensembl
Innerchr3:129856362..129881911hg18UCSC Ensembl
Cytoband3q21.3
Allele length
AssemblyAllele length
hg3825550
hg1925550
hg1825550
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2763764
Supporting Variants
SamplesSW_1365
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)essv7027709
Frequency
Sample Size1109
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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