A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6997561



Internal ID10022873
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:99599411..99614543hg38UCSC Ensembl
Innerchr12:99993189..100008321hg19UCSC Ensembl
Innerchr12:98517320..98532452hg18UCSC Ensembl
Cytoband12q23.1
Allele length
AssemblyAllele length
hg3815133
hg1915133
hg1815133
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2760877
Supporting Variants
SamplesSW_1313
Known GenesANKS1B
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)essv6997561
Frequency
Sample Size1109
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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