A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6996269



Internal ID10025624
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:104116099..104152972hg38UCSC Ensembl
Innerchr11:103986827..104023700hg19UCSC Ensembl
Innerchr11:103492037..103528910hg18UCSC Ensembl
Cytoband11q22.3
Allele length
AssemblyAllele length
hg3836874
hg1936874
hg1836874
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2760322
Supporting Variants
SamplesSW_1437
Known GenesPDGFD
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)essv6996269
Frequency
Sample Size1109
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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