A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6996477



Internal ID10007409
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:759943..767080hg38UCSC Ensembl
Innerchr12:869109..876246hg19UCSC Ensembl
Innerchr12:739370..746507hg18UCSC Ensembl
Cytoband12p13.33
Allele length
AssemblyAllele length
hg387138
hg197138
hg187138
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2760688
Supporting Variants
SamplesSW_0158
Known GenesWNK1
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)essv6996477
Frequency
Sample Size1109
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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