A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2762619



Internal ID10375417
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:146699983..146720472hg38UCSC Ensembl
Innerchr6:147021119..147041608hg19UCSC Ensembl
Innerchr6:147062812..147083301hg18UCSC Ensembl
Cytoband6q24.3
Allele length
AssemblyAllele length
hg3820490
hg1920490
hg1820490
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7014302
SamplesRW_0106
Known GenesADGB
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)esv2762619
Frequency
Sample Size1109
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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