A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2763312



Internal ID10030662
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:158475723..158702799hg38UCSC Ensembl
Innerchr3:158193512..158420588hg19UCSC Ensembl
Innerchr3:159676206..159903282hg18UCSC Ensembl
Cytoband3q25.32
Allele length
AssemblyAllele length
hg38227077
hg19227077
hg18227077
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7027972
SamplesSW_1257
Known GenesGFM1, LOC100996447, LXN, MLF1, RARRES1, RSRC1
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)esv2763312
Frequency
Sample Size1109
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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