A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6990929



Internal ID10009263
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:79369910..79403832hg38UCSC Ensembl
Innerchr7:78999226..79033148hg19UCSC Ensembl
Innerchr7:78837162..78871084hg18UCSC Ensembl
Cytoband7q21.11
Allele length
AssemblyAllele length
hg3833923
hg1933923
hg1833923
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2764028
Supporting Variants
SamplesSW_0312
Known GenesMAGI2
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)essv6990929
Frequency
Sample Size1109
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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