A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7005889



Internal ID10018219
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:235488745..235500574hg38UCSC Ensembl
Innerchr1:235652049..235663874hg19UCSC Ensembl
Innerchr1:233718672..233730497hg18UCSC Ensembl
Cytoband1q42.3
Allele length
AssemblyAllele length
hg3811830
hg1911826
hg1811826
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2762178
Supporting Variants
SamplesSW_1119
Known GenesB3GALNT2
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)essv7005889
Frequency
Sample Size1109
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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