A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7021648



Internal ID10336292
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr13:60617388..60628049hg38UCSC Ensembl
Innerchr13:61191522..61202183hg19UCSC Ensembl
Innerchr13:60089523..60100184hg18UCSC Ensembl
Cytoband13q21.2
Allele length
AssemblyAllele length
hg3810662
hg1910662
hg1810662
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2760319
Supporting Variants
SamplesRW_0123
Known Genes
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)essv7021648
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