A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7032128



Internal ID10364407
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:61972739..62099978hg38UCSC Ensembl
Innerchr6:62682644..62809883hg19UCSC Ensembl
Innerchr6:62740603..62867842hg18UCSC Ensembl
Cytoband6q11.1
Allele length
AssemblyAllele length
hg38127240
hg19127240
hg18127240
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2763556
Supporting Variants
SamplesSW_1104
Known GenesKHDRBS2
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)essv7032128
Frequency
Sample Size1109
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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