A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6998122



Internal ID10359880
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:152554167..152607349hg38UCSC Ensembl
Innerchr1:152526643..152579825hg19UCSC Ensembl
Innerchr1:150793267..150846449hg18UCSC Ensembl
Cytoband1q21.3
Allele length
AssemblyAllele length
hg3853183
hg1953183
hg1853183
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2762965
Supporting Variants
SamplesSW_0804
Known GenesLCE3C, LCE3D, LCE3E
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)essv6998122
Frequency
Sample Size1109
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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