A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7032379



Internal ID10351701
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:88666799..88683110hg38UCSC Ensembl
Innerchr1:89132482..89148793hg19UCSC Ensembl
Innerchr1:88905070..88921381hg18UCSC Ensembl
Cytoband1p22.2
Allele length
AssemblyAllele length
hg3816312
hg1916312
hg1816312
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2763579
Supporting Variants
SamplesSW_0008
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)essv7032379
Frequency
Sample Size1109
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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