A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7020797



Internal ID9999909
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:31104761..31257350hg38UCSC Ensembl
Innerchr12:31257695..31410284hg19UCSC Ensembl
Innerchr12:31148962..31301551hg18UCSC Ensembl
Cytoband12p11.21
Allele length
AssemblyAllele length
hg38152590
hg19152590
hg18152590
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2760232
Supporting Variants
SamplesRW_0539
Known GenesDDX11
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)essv7020797
Frequency
Sample Size1109
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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