A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6997384



Internal ID10006939
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:38217308..38343820hg38UCSC Ensembl
Innerchr12:38611110..38737622hg19UCSC Ensembl
Innerchr12:36897377..37023889hg18UCSC Ensembl
Cytoband12q12
Allele length
AssemblyAllele length
hg38126513
hg19126513
hg18126513
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2761088
Supporting Variants
SamplesSW_0119
Known GenesALG10B
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)essv6997384
Frequency
Sample Size1109
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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