A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2760357



Internal ID10027720
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:47754840..47808248hg38UCSC Ensembl
Innerchr14:48224043..48277451hg19UCSC Ensembl
Innerchr14:47293793..47347201hg18UCSC Ensembl
Cytoband14q21.3
Allele length
AssemblyAllele length
hg3853409
hg1953409
hg1853409
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv38e203
Supporting Variantsessv7022192, essv7022185, essv7022195, essv7022187, essv7022197, essv7022186, essv7022198, essv7022193, essv7022199, essv7022190, essv7022191, essv7022196, essv7022194
SamplesRW_0305, RW_0533, RW_0136, RW_0074, RW_0173, RW_0505, RW_0515, RW_0625, RW_0527, RW_0132, RW_0613, RW_0079, RW_0594
Known GenesLINC00648, MIR548Y
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)esv2760357
Frequency
Sample Size1109
Observed Gain0
Observed Loss13
Observed Complex0
Frequencyn/a


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