A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2763485



Internal ID10376165
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:113620903..113644924hg38UCSC Ensembl
Innerchr5:112956600..112980621hg19UCSC Ensembl
Innerchr5:112984499..113008520hg18UCSC Ensembl
Cytoband5q22.2
Allele length
AssemblyAllele length
hg3824022
hg1924022
hg1824022
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv135e203
Supporting Variantsessv7031387
SamplesSW_1087
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)esv2763485
Frequency
Sample Size1109
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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