A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2764146



Internal ID10031496
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:133400840..133582780hg38UCSC Ensembl
Innerchr10:135214344..135396284hg19UCSC Ensembl
Innerchr10:135064334..135246274hg18UCSC Ensembl
Cytoband10q26.3
Allele length
AssemblyAllele length
hg38181941
hg19181941
hg18181941
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6995280, essv6995257, essv6995263, essv6995270, essv6995271, essv6995276, essv6995269, essv6995265, essv6995284, essv6995279, essv6995258, essv6995272, essv6995259, essv6995268, essv6995283, essv6995266, essv6995274, essv6995275, essv6995277, essv6995273, essv6995261, essv6995262, essv6995260, essv6995264, essv6995282, essv6995281
SamplesSW_0311, SW_1372, SW_1131, SW_0891, SW_0352, SW_1199, SW_1317, SW_1234, SW_0149, SW_1104, SW_0632, SW_0145, SW_1366, SW_1569, SW_0585, SW_0216, SW_1004, SW_0579, SW_0634, SW_1017, SW_0169, SW_1142, SW_0076, SW_0775, SW_0170, SW_1074
Known GenesCYP2E1, MTG1, SCART1, SPRN, SPRNP1, SYCE1
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)esv2764146
Frequency
Sample Size1109
Observed Gain24
Observed Loss2
Observed Complex0
Frequencyn/a


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