A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2763458



Internal ID10376138
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:62556407..62861339hg38UCSC Ensembl
Innerchr5:61852234..62157166hg19UCSC Ensembl
Innerchr5:61887991..62192922hg18UCSC Ensembl
Cytoband5q12.1
Allele length
AssemblyAllele length
hg38304933
hg19304933
hg18304932
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7031219
SamplesSW_0119
Known GenesIPO11, IPO11-LRRC70, LRRC70
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)esv2763458
Frequency
Sample Size1109
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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