A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2763989



Internal ID10031339
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:40376720..40464040hg38UCSC Ensembl
Innerchr6:40344459..40431779hg19UCSC Ensembl
Innerchr6:40452437..40539757hg18UCSC Ensembl
Cytoband6p21.2
Allele length
AssemblyAllele length
hg3887321
hg1987321
hg1887321
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7032077, essv7032076
SamplesSW_0635, SW_1031
Known GenesLRFN2, TDRG1
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)esv2763989
Frequency
Sample Size1109
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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