A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7021821



Internal ID10355261
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:194707879..194801634hg38UCSC Ensembl
Innerchr2:195572603..195666358hg19UCSC Ensembl
Innerchr2:195280848..195374603hg18UCSC Ensembl
Cytoband2q32.3
Allele length
AssemblyAllele length
hg3893756
hg1993756
hg1893756
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2763052
Supporting Variants
SamplesSW_0215
Known Genes
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)essv7021821
Frequency
Sample Size1109
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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