A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2762041



Internal ID10029391
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:43481871..43510305hg38UCSC Ensembl
Innerchr19:43986023..44014457hg19UCSC Ensembl
Innerchr19:48677863..48706297hg18UCSC Ensembl
Cytoband19q13.31
Allele length
AssemblyAllele length
hg3828435
hg1928435
hg1828435
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7003594
SamplesSW_0620
Known GenesETHE1, PHLDB3
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)esv2762041
Frequency
Sample Size1109
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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