A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6997126



Internal ID10020111
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:27695850..27756925hg38UCSC Ensembl
Innerchr12:27848783..27909858hg19UCSC Ensembl
Innerchr12:27740050..27801125hg18UCSC Ensembl
Cytoband12p11.22
Allele length
AssemblyAllele length
hg3861076
hg1961076
hg1861076
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2761729
Supporting Variants
SamplesSW_1196
Known GenesMRPS35, REP15
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)essv6997126
Frequency
Sample Size1109
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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