A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7005415



Internal ID10331959
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:72280850..72297687hg38UCSC Ensembl
Innerchr1:72746533..72763370hg19UCSC Ensembl
Innerchr1:72519121..72535958hg18UCSC Ensembl
Cytoband1p31.1
Allele length
AssemblyAllele length
hg3816838
hg1916838
hg1816838
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2764234
Supporting Variants
SamplesRW_0010
Known GenesNEGR1
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)essv7005415
Frequency
Sample Size1109
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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