A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7030404



Internal ID10025041
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:136349..234874hg38UCSC Ensembl
Innerchr5:136464..234989hg19UCSC Ensembl
Innerchr5:189464..287989hg18UCSC Ensembl
Cytoband5p15.33
Allele length
AssemblyAllele length
hg3898526
hg1998526
hg1898526
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2763907
Supporting Variants
SamplesSW_1415
Known GenesCCDC127, LRRC14B, PLEKHG4B, SDHA
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)essv7030404
Frequency
Sample Size1109
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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