A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6997554



Internal ID10021939
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:99401515..99404956hg38UCSC Ensembl
Innerchr12:99795293..99798734hg19UCSC Ensembl
Innerchr12:98319424..98322865hg18UCSC Ensembl
Cytoband12q23.1
Allele length
AssemblyAllele length
hg383442
hg193442
hg183442
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2760988
Supporting Variants
SamplesSW_1275
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)essv6997554
Frequency
Sample Size1109
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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