A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7018107



Internal ID9991735
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr9:133054342..133061625hg38UCSC Ensembl
Innerchr9:135929729..135937012hg19UCSC Ensembl
Innerchr9:134919550..134926833hg18UCSC Ensembl
Cytoband9q34.2
Allele length
AssemblyAllele length
hg387284
hg197284
hg187284
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2761264
Supporting Variants
SamplesRW_0179
Known GenesGTF3C5
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)essv7018107
Frequency
Sample Size1109
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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