A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7012740



Internal ID10004039
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:36599283..36613099hg38UCSC Ensembl
Innerchr5:36599385..36613201hg19UCSC Ensembl
Innerchr5:36635142..36648958hg18UCSC Ensembl
Cytoband5p13.2
Allele length
AssemblyAllele length
hg3813817
hg1913817
hg1813817
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2762516
Supporting Variants
SamplesRW_0650
Known GenesSLC1A3
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)essv7012740
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