A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7010944



Internal ID10013213
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:30592132..30626477hg38UCSC Ensembl
Innerchr2:30814998..30849343hg19UCSC Ensembl
Innerchr2:30668502..30702847hg18UCSC Ensembl
Cytoband2p23.1
Allele length
AssemblyAllele length
hg3834346
hg1934346
hg1834346
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2762445
Supporting Variants
SamplesSW_0804
Known GenesLCLAT1
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)essv7010944
Frequency
Sample Size1109
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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