A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2762227



Internal ID10029577
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:236440911..236623173hg38UCSC Ensembl
Innerchr1:236604211..236786473hg19UCSC Ensembl
Innerchr1:234670834..234853096hg18UCSC Ensembl
Cytoband1q43
Allele length
AssemblyAllele length
hg38182263
hg19182263
hg18182263
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7007018
SamplesRW_0312
Known GenesEDARADD, HEATR1, LGALS8, LGALS8-AS1
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)esv2762227
Frequency
Sample Size1109
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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