A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2762611



Internal ID10375409
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:96246774..96305576hg38UCSC Ensembl
Innerchr6:96694650..96753452hg19UCSC Ensembl
Innerchr6:96801371..96860173hg18UCSC Ensembl
Cytoband6q16.1
Allele length
AssemblyAllele length
hg3858803
hg1958803
hg1858803
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7014150
SamplesRW_0031
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)esv2762611
Frequency
Sample Size1109
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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