A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7014816



Internal ID9988165
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:76659437..76803016hg38UCSC Ensembl
Innerchr7:76288754..76432333hg19UCSC Ensembl
Innerchr7:76126690..76270269hg18UCSC Ensembl
Cytoband7q11.23
Allele length
AssemblyAllele length
hg38143580
hg19143580
hg18143580
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2761124
Supporting Variants
SamplesRW_0088
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)essv7014816
Frequency
Sample Size1109
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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