A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2760973



Internal ID10377280
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:111563255..111581704hg38UCSC Ensembl
Innerchr5:110898953..110917401hg19UCSC Ensembl
Innerchr5:110926852..110945300hg18UCSC Ensembl
Cytoband5q22.1
Allele length
AssemblyAllele length
hg3818450
hg1918449
hg1818449
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7012998, essv7012993, essv7012975, essv7013013, essv7012989, essv7013002, essv7012995, essv7013008, essv7012999, essv7013010, essv7012978, essv7013006, essv7012994, essv7013007, essv7012987, essv7012991, essv7013011, essv7012980, essv7013000, essv7013005, essv7013004, essv7012997, essv7012986, essv7012985, essv7013003, essv7012996, essv7012976, essv7013009, essv7012977, essv7012981, essv7012982, essv7012983, essv7012988, essv7012984, essv7012992
SamplesRW_0274, RW_0644, RW_0538, RW_0359, RW_0268, RW_0566, RW_0202, RW_0255, RW_0271, RW_0503, RW_0115, RW_0228, RW_0017, RW_0272, RW_0122, RW_0500, RW_0061, RW_0637, RW_0094, RW_0185, RW_0608, RW_0655, RW_0587, RW_0607, RW_0534, RW_0524, RW_0210, RW_0249, RW_0543, RW_0632, RW_0275, RW_0277, RW_0110, RW_0590, RW_0139
Known GenesSTARD4-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)esv2760973
Frequency
Sample Size1109
Observed Gain0
Observed Loss35
Observed Complex0
Frequencyn/a


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