A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2761589



Internal ID10028942
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:30034963..30042152hg38UCSC Ensembl
Innerchr10:30323892..30331081hg19UCSC Ensembl
Innerchr10:30363898..30371087hg18UCSC Ensembl
Cytoband10p11.23
Allele length
AssemblyAllele length
hg387190
hg197190
hg187190
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6994618
SamplesSW_0639
Known GenesKIAA1462
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)esv2761589
Frequency
Sample Size1109
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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