A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7028514



Internal ID10010691
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:197746211..197885149hg38UCSC Ensembl
Innerchr3:197473082..197612020hg19UCSC Ensembl
Innerchr3:198957479..199096417hg18UCSC Ensembl
Cytoband3q29
Allele length
AssemblyAllele length
hg38138939
hg19138939
hg18138939
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2763718
Supporting Variants
SamplesSW_0604
Known GenesFYTTD1, KIAA0226, LRCH3
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)essv7028514
Frequency
Sample Size1109
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer