A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2762837



Internal ID10030187
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:1558906..1588626hg38UCSC Ensembl
Innerchr10:1601101..1630821hg19UCSC Ensembl
Innerchr10:1591101..1620821hg18UCSC Ensembl
Cytoband10p15.3
Allele length
AssemblyAllele length
hg3829721
hg1929721
hg1829721
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7018117
SamplesRW_0131
Known GenesADARB2
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)esv2762837
Frequency
Sample Size1109
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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