A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7011203



Internal ID10348670
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:69261926..69405833hg38UCSC Ensembl
Innerchr4:70127644..70271551hg19UCSC Ensembl
Innerchr4:70162233..70306140hg18UCSC Ensembl
Cytoband4q13.2
Allele length
AssemblyAllele length
hg38143908
hg19143908
hg18143908
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2760898
Supporting Variants
SamplesRW_0597
Known GenesUGT2B28
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)essv7011203
Frequency
Sample Size1109
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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