A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7027785



Internal ID10357663
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:130044855..130087393hg38UCSC Ensembl
Innerchr3:129763698..129806236hg19UCSC Ensembl
Innerchr3:131246388..131288926hg18UCSC Ensembl
Cytoband3q21.3
Allele length
AssemblyAllele length
hg3842539
hg1942539
hg1842539
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2763722
Supporting Variants
SamplesSW_0621
Known GenesALG1L2
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)essv7027785
Frequency
Sample Size1109
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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