A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2762969



Internal ID10030319
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:29177075..29181968hg38UCSC Ensembl
Innerchr12:29330008..29334901hg19UCSC Ensembl
Innerchr12:29221275..29226168hg18UCSC Ensembl
Cytoband12p11.22
Allele length
AssemblyAllele length
hg384894
hg194894
hg184894
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7020785
SamplesRW_0566
Known GenesFAR2
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)esv2762969
Frequency
Sample Size1109
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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