A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6995733



Internal ID10014186
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:148577601..148645596hg38UCSC Ensembl
Innerchr1:145243316..145311536hg19UCSC Ensembl
Innerchr1:143954673..144022893hg18UCSC Ensembl
Cytoband1q21.1
Allele length
AssemblyAllele length
hg3867996
hg1968221
hg1868221
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2761299
Supporting Variants
SamplesSW_0855
Known GenesLOC100288142, LOC101929780, NBPF10, NBPF12, NBPF9, NOTCH2NL
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)essv6995733
Frequency
Sample Size1109
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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