A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2762907



Internal ID10375705
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:40608583..40746874hg38UCSC Ensembl
Innerchr11:40630133..40768424hg19UCSC Ensembl
Innerchr11:40586709..40725000hg18UCSC Ensembl
Cytoband11p12
Allele length
AssemblyAllele length
hg38138292
hg19138292
hg18138292
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7019803
SamplesRW_0138
Known GenesLRRC4C
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)esv2762907
Frequency
Sample Size1109
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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