A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2763204



Internal ID10375884
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:39884169..39903748hg38UCSC Ensembl
Innerchr19:40374809..40393821hg19UCSC Ensembl
Innerchr19:45066649..45085661hg18UCSC Ensembl
Cytoband19q13.2
Allele length
AssemblyAllele length
hg3819580
hg1919013
hg1819013
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7025606
SamplesRW_0207
Known GenesFCGBP
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)esv2763204
Frequency
Sample Size1109
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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