A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2760644



Internal ID10028006
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:59031526..59101750hg38UCSC Ensembl
Innerchr11:58798999..58869223hg19UCSC Ensembl
Innerchr11:58555575..58625799hg18UCSC Ensembl
Cytoband11q12.1
Allele length
AssemblyAllele length
hg3870225
hg1970225
hg1870225
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv20e203
Supporting Variantsessv6996085, essv6996086, essv6996087, essv6996084, essv6996083, essv6996082, essv6996081
SamplesSW_0370, SW_0773, SW_1174, SW_0091, SW_1327, SW_0187, SW_0170
Known GenesLOC283194
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)esv2760644
Frequency
Sample Size1109
Observed Gain6
Observed Loss1
Observed Complex0
Frequencyn/a


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