A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7025288



Internal ID9986300
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:7071383..7103970hg38UCSC Ensembl
Innerchr19:7071394..7103981hg19UCSC Ensembl
Innerchr19:7022394..7054981hg18UCSC Ensembl
Cytoband19p13.2
Allele length
AssemblyAllele length
hg3832588
hg1932588
hg1832588
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2760525
Supporting Variants
SamplesRW_0033
Known GenesZNF557
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)essv7025288
Frequency
Sample Size1109
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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