A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2762628



Internal ID10375426
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:163151116..163199871hg38UCSC Ensembl
Innerchr6:163572148..163620903hg19UCSC Ensembl
Innerchr6:163492138..163540893hg18UCSC Ensembl
Cytoband6q26
Allele length
AssemblyAllele length
hg3848756
hg1948756
hg1848756
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7014361
SamplesRW_0334
Known GenesPACRG
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)esv2762628
Frequency
Sample Size1109
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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