A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2761535



Internal ID10028888
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr9:71872257..71920586hg38UCSC Ensembl
Innerchr9:74487173..74535502hg19UCSC Ensembl
Innerchr9:73676993..73725322hg18UCSC Ensembl
Cytoband9q21.13
Allele length
AssemblyAllele length
hg3848330
hg1948330
hg1848330
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6994280
SamplesSW_0819
Known GenesABHD17B, C9orf85
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)esv2761535
Frequency
Sample Size1109
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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