A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6990991



Internal ID10019497
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:102595265..102648075hg38UCSC Ensembl
Innerchr7:102235712..102288522hg19UCSC Ensembl
Innerchr7:102022781..102075758hg18UCSC Ensembl
Cytoband7q22.1
Allele length
AssemblyAllele length
hg3852811
hg1952811
hg1852978
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2764015
Supporting Variants
SamplesSW_1171
Known GenesPOLR2J2, POLR2J3, RASA4, RASA4B, UPK3BL
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)essv6990991
Frequency
Sample Size1109
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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