A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2763591



Internal ID10376271
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:102906510..102909873hg38UCSC Ensembl
Innerchr6:103354385..103357748hg19UCSC Ensembl
Innerchr6:103461078..103464441hg18UCSC Ensembl
Cytoband6q16.3
Allele length
AssemblyAllele length
hg383364
hg193364
hg183364
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7033010
SamplesSW_1017
Known Genes
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)esv2763591
Frequency
Sample Size1109
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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