A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2761051



Internal ID10028413
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:167693926..168158833hg38UCSC Ensembl
Innerchr6:168094606..168559513hg19UCSC Ensembl
Innerchr6:167837455..168302362hg18UCSC Ensembl
Cytoband6q27
Allele length
AssemblyAllele length
hg38464908
hg19464908
hg18464908
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7014379, essv7014380
SamplesRW_0222, RW_0508
Known GenesC6orf123, FRMD1, HGC6.3, KIF25, KIF25-AS1, MLLT4, MLLT4-AS1
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)esv2761051
Frequency
Sample Size1109
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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