A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7014479



Internal ID10334091
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:12477851..12518631hg38UCSC Ensembl
Innerchr7:12517477..12558257hg19UCSC Ensembl
Innerchr7:12484002..12524782hg18UCSC Ensembl
Cytoband7p21.3
Allele length
AssemblyAllele length
hg3840781
hg1940781
hg1840781
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2761074
Supporting Variants
SamplesRW_0065
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)essv7014479
Frequency
Sample Size1109
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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