A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2761725



Internal ID10029075
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:6682182..6754772hg38UCSC Ensembl
Innerchr12:6791348..6863938hg19UCSC Ensembl
Innerchr12:6661609..6734199hg18UCSC Ensembl
Cytoband12p13.31
Allele length
AssemblyAllele length
hg3872591
hg1972591
hg1872591
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6996559
SamplesSW_1431
Known GenesCOPS7A, MLF2, PIANP, ZNF384
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)esv2761725
Frequency
Sample Size1109
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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