A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7014593



Internal ID10338771
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:47245685..47249326hg38UCSC Ensembl
Innerchr7:47285283..47288924hg19UCSC Ensembl
Innerchr7:47251808..47255449hg18UCSC Ensembl
Cytoband7p12.3
Allele length
AssemblyAllele length
hg383642
hg193642
hg183642
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2761163
Supporting Variants
SamplesRW_0186
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)essv7014593
Frequency
Sample Size1109
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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