A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7003182



Internal ID10007813
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:6957866..7015036hg38UCSC Ensembl
Innerchr19:6957877..7015047hg19UCSC Ensembl
Innerchr19:6908877..6966047hg18UCSC Ensembl
Cytoband19p13.2
Allele length
AssemblyAllele length
hg3857171
hg1957171
hg1857171
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2762977
Supporting Variants
SamplesSW_0173
Known GenesEMR4P, FLJ25758
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)essv7003182
Frequency
Sample Size1109
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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