A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6990921



Internal ID10026170
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:76803005..76977978hg38UCSC Ensembl
Innerchr7:76432322..76607295hg19UCSC Ensembl
Innerchr7:76270258..76445231hg18UCSC Ensembl
Cytoband7q11.23
Allele length
AssemblyAllele length
hg38174974
hg19174974
hg18174974
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2764008
Supporting Variants
SamplesSW_1464
Known Genes
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)essv6990921
Frequency
Sample Size1109
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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