A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2761757



Internal ID10374555
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:85232688..85348156hg38UCSC Ensembl
Innerchr12:85626466..85741934hg19UCSC Ensembl
Innerchr12:84150597..84266065hg18UCSC Ensembl
Cytoband12q21.31
Allele length
AssemblyAllele length
hg38115469
hg19115469
hg18115469
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6997453
SamplesSW_0102
Known GenesALX1, LRRIQ1
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)esv2761757
Frequency
Sample Size1109
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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