A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2761824



Internal ID10029174
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:24444802..24524460hg38UCSC Ensembl
Innerchr14:24914008..24993666hg19UCSC Ensembl
Innerchr14:23983848..24063506hg18UCSC Ensembl
Cytoband14q12
Allele length
AssemblyAllele length
hg3879659
hg1979659
hg1879659
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6998468
SamplesSW_0021
Known GenesCMA1
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)esv2761824
Frequency
Sample Size1109
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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