A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2762966



Internal ID10030316
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+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7003314, essv7003313, essv7003311, essv7003310
SamplesSW_1400, SW_1217, SW_1235, SW_1270
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)esv2762966
Frequency
Sample Size1109
Observed Gain1
Observed Loss3
Observed Complex0
Frequencyn/a


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