A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2763940



Internal ID10031290
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:53228517..53622284hg38UCSC Ensembl
Innerchr6:53093315..53487082hg19UCSC Ensembl
Innerchr6:53201274..53595041hg18UCSC Ensembl
Cytoband6p12.1
Allele length
AssemblyAllele length
hg38393768
hg19393768
hg18393768
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7032095, essv7032094
SamplesSW_0148, SW_1400
Known GenesELOVL5, GCLC, MIR5685, RPS16P5
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)esv2763940
Frequency
Sample Size1109
Observed Gain1
Observed Loss1
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer