A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2760517



Internal ID10376825
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:39039372..39053594hg38UCSC Ensembl
Innerchr19:39530012..39544234hg19UCSC Ensembl
Innerchr19:44221852..44236074hg18UCSC Ensembl
Cytoband19q13.2
Allele length
AssemblyAllele length
hg3814223
hg1914223
hg1814223
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7025603, essv7025602, essv7025605, essv7025604
SamplesRW_0553, RW_0118, RW_0513, RW_0033
Known Genes
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)esv2760517
Frequency
Sample Size1109
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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