A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2764127



Internal ID10031477
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:56133754..56183459hg38UCSC Ensembl
Innerchr8:57046313..57096018hg19UCSC Ensembl
Innerchr8:57208867..57258572hg18UCSC Ensembl
Cytoband8q12.1
Allele length
AssemblyAllele length
hg3849706
hg1949706
hg1849706
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv158e203
Supporting Variantsessv6993181, essv6993180, essv6993179
SamplesSW_0620, SW_0203, SW_0586
Known GenesPLAG1
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)esv2764127
Frequency
Sample Size1109
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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