A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7003310



Internal ID10020659
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:27390278..28048374hg38UCSC Ensembl
Innerchr19:27881186..28539281hg19UCSC Ensembl
Innerchr19:32573026..33231121hg18UCSC Ensembl
Cytoband19q11
Allele length
AssemblyAllele length
hg38658097
hg19658096
hg18658096
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2762966
Supporting Variants
SamplesSW_1217
Known GenesLINC00662
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)essv7003310
Frequency
Sample Size1109
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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