A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2760331



Internal ID10376639
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:74103237..74131264hg38UCSC Ensembl
Innerchr14:74569940..74597967hg19UCSC Ensembl
Innerchr14:73639693..73667720hg18UCSC Ensembl
Cytoband14q24.3
Allele length
AssemblyAllele length
hg3828028
hg1928028
hg1828028
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7022248, essv7022250, essv7022249, essv7022247
SamplesRW_0629, RW_0601, RW_0252, RW_0251
Known GenesLIN52
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)esv2760331
Frequency
Sample Size1109
Observed Gain4
Observed Loss0
Observed Complex0
Frequencyn/a


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