A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7013631



Internal ID9994025
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:35538954..35605468hg38UCSC Ensembl
Innerchr6:35506731..35573245hg19UCSC Ensembl
Innerchr6:35614709..35681223hg18UCSC Ensembl
Cytoband6p21.31
Allele length
AssemblyAllele length
hg3866515
hg1966515
hg1866515
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2761067
Supporting Variants
SamplesRW_0226
Known GenesFKBP5
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)essv7013631
Frequency
Sample Size1109
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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