A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7018344



Internal ID10356376
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:135398020..135494210hg38UCSC Ensembl
Innerchr2:136155590..136251780hg19UCSC Ensembl
Innerchr2:135872060..135968250hg18UCSC Ensembl
Cytoband2q21.3
Allele length
AssemblyAllele length
hg3896191
hg1996191
hg1896191
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2762862
Supporting Variants
SamplesSW_0379
Known GenesZRANB3
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)essv7018344
Frequency
Sample Size1109
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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