A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7003407



Internal ID10360159
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:40851095..40870114hg38UCSC Ensembl
Innerchr19:41357000..41376019hg19UCSC Ensembl
Innerchr19:46048840..46067859hg18UCSC Ensembl
Cytoband19q13.2
Allele length
AssemblyAllele length
hg3819020
hg1919020
hg1819020
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2763010
Supporting Variants
SamplesSW_0818
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)essv7003407
Frequency
Sample Size1109
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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