A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6994397



Internal ID10012992
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:5008430..5033532hg38UCSC Ensembl
Innerchr10:5050622..5075724hg19UCSC Ensembl
Innerchr10:5040622..5065724hg18UCSC Ensembl
Cytoband10p15.1
Allele length
AssemblyAllele length
hg3825103
hg1925103
hg1825103
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2763913
Supporting Variants
SamplesSW_0790
Known GenesAKR1C2
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)essv6994397
Frequency
Sample Size1109
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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