A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2763435



Internal ID10030785
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:7477808..7479840hg38UCSC Ensembl
Innerchr5:7477921..7479953hg19UCSC Ensembl
Innerchr5:7530921..7532953hg18UCSC Ensembl
Cytoband5p15.31
Allele length
AssemblyAllele length
hg382033
hg192033
hg182033
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7030633
SamplesSW_1193
Known GenesADCY2
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)esv2763435
Frequency
Sample Size1109
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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