A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2762849



Internal ID10030199
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:27207599..27209277hg38UCSC Ensembl
Innerchr10:27496528..27498206hg19UCSC Ensembl
Innerchr10:27536534..27538212hg18UCSC Ensembl
Cytoband10p12.1
Allele length
AssemblyAllele length
hg381679
hg191679
hg181679
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7018260
SamplesRW_0123
Known GenesACBD5
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)esv2762849
Frequency
Sample Size1109
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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