A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6995247



Internal ID10355502
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:125892202..126013242hg38UCSC Ensembl
Innerchr10:127580771..127701811hg19UCSC Ensembl
Innerchr10:127570761..127691801hg18UCSC Ensembl
Cytoband10q26.2
Allele length
AssemblyAllele length
hg38121041
hg19121041
hg18121041
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2761638
Supporting Variants
SamplesSW_0244
Known GenesFANK1, FANK1-AS1
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)essv6995247
Frequency
Sample Size1109
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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