A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7011207



Internal ID10339320
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:69277656..69361181hg38UCSC Ensembl
Innerchr4:70143374..70226899hg19UCSC Ensembl
Innerchr4:70177963..70261488hg18UCSC Ensembl
Cytoband4q13.2
Allele length
AssemblyAllele length
hg3883526
hg1983526
hg1883526
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2760898
Supporting Variants
SamplesRW_0196
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)essv7011207
Frequency
Sample Size1109
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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