A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2760455



Internal ID10027818
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:125205392..125218604hg38UCSC Ensembl
Innerchr11:125075288..125088500hg19UCSC Ensembl
Innerchr11:124580498..124593710hg18UCSC Ensembl
Cytoband11q24.2
Allele length
AssemblyAllele length
hg3813213
hg1913213
hg1813213
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6996317, essv6996325, essv6996330, essv6996333, essv6996322, essv6996328, essv6996327, essv6996332, essv6996321, essv6996331, essv6996324, essv6996320, essv6996335, essv6996326, essv6996318, essv6996329, essv6996319
SamplesSW_1097, SW_1094, SW_1506, SW_0009, SW_0057, SW_1068, SW_0625, SW_1270, SW_1220, SW_1108, SW_0169, SW_0032, SW_1223, SW_1049, SW_0031, SW_1203, SW_0621
Known GenesPKNOX2
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)esv2760455
Frequency
Sample Size1109
Observed Gain0
Observed Loss17
Observed Complex0
Frequencyn/a


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