A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2762725



Internal ID10030075
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:11465488..11493212hg38UCSC Ensembl
Innerchr8:11322997..11350721hg19UCSC Ensembl
Innerchr8:11360407..11388130hg18UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg3827725
hg1927725
hg1827724
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7016056
SamplesRW_0655
Known GenesFAM167A
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)esv2762725
Frequency
Sample Size1109
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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