A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2761547



Internal ID10374345
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr9:97347588..97352877hg38UCSC Ensembl
Innerchr9:100109870..100115159hg19UCSC Ensembl
Innerchr9:99149691..99154980hg18UCSC Ensembl
Cytoband9q22.33
Allele length
AssemblyAllele length
hg385290
hg195290
hg185290
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6994344
SamplesSW_1452
Known GenesCCDC180, LOC100499484-C9ORF174
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)esv2761547
Frequency
Sample Size1109
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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