A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7029242



Internal ID10370304
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:44964987..45004175hg38UCSC Ensembl
Innerchr4:44967004..45006192hg19UCSC Ensembl
Innerchr4:44661761..44700949hg18UCSC Ensembl
Cytoband4p12
Allele length
AssemblyAllele length
hg3839189
hg1939189
hg1839189
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2763861
Supporting Variants
SamplesSW_1351
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)essv7029242
Frequency
Sample Size1109
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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