A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7014560



Internal ID9986456
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:29169172..29180327hg38UCSC Ensembl
Innerchr7:29208788..29219943hg19UCSC Ensembl
Innerchr7:29175313..29186468hg18UCSC Ensembl
Cytoband7p14.3
Allele length
AssemblyAllele length
hg3811156
hg1911156
hg1811156
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2762661
Supporting Variants
SamplesRW_0039
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)essv7014560
Frequency
Sample Size1109
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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