A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2760621



Internal ID10376928
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:4217824..4343469hg38UCSC Ensembl
Innerchr11:4239054..4364699hg19UCSC Ensembl
Innerchr11:4195630..4321275hg18UCSC Ensembl
Cytoband11p15.4
Allele length
AssemblyAllele length
hg38125646
hg19125646
hg18125646
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv16e203
Supporting Variantsessv6995298, essv6995294, essv6995303, essv6995307, essv6995321, essv6995331, essv6995295, essv6995308, essv6995299, essv6995292, essv6995290, essv6995329, essv6995304, essv6995338, essv6995326, essv6995306, essv6995310, essv6995297, essv6995296, essv6995302, essv6995314, essv6995330, essv6995291, essv6995339, essv6995328, essv6995322, essv6995311, essv6995340, essv6995319, essv6995293, essv6995316, essv6995309, essv6995318, essv6995335, essv6995305, essv6995336, essv6995333, essv6995317, essv6995324, essv6995320, essv6995315, essv6995325, essv6995327, essv6995332, essv6995337, essv6995313
SamplesSW_1125, SW_1242, SW_0831, SW_0285, SW_0620, SW_0102, SW_0164, SW_0191, SW_1232, SW_1294, SW_0834, SW_1013, SW_1512, SW_0815, SW_0702, SW_0786, SW_1456, SW_1355, SW_1408, SW_1009, SW_1504, SW_0058, SW_1411, SW_1417, SW_0641, SW_1295, SW_1278, SW_1471, SW_0339, SW_1368, SW_1306, SW_1346, SW_1071, SW_0190, SW_0186, SW_0626, SW_0147, SW_0634, SW_1551, SW_1217, SW_1384, SW_1073, SW_1208, SW_0836, SW_1430
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)esv2760621
Frequency
Sample Size1109
Observed Gain11
Observed Loss34
Observed Complex0
Frequencyn/a


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