A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7007557



Internal ID10338296
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:46190557..46193108hg38UCSC Ensembl
Innerchr2:46417696..46420247hg19UCSC Ensembl
Innerchr2:46271200..46273751hg18UCSC Ensembl
Cytoband2p21
Allele length
AssemblyAllele length
hg382552
hg192552
hg182552
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2760642
Supporting Variants
SamplesRW_0178
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)essv7007557
Frequency
Sample Size1109
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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