A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2762612



Internal ID10375410
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:102116191..102150369hg38UCSC Ensembl
Innerchr6:102564066..102598244hg19UCSC Ensembl
Innerchr6:102670759..102704937hg18UCSC Ensembl
Cytoband6q16.3
Allele length
AssemblyAllele length
hg3834179
hg1934179
hg1834179
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7014153
SamplesRW_0025
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)esv2762612
Frequency
Sample Size1109
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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