A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv165e203



Internal ID20126390
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:69476351..69505361hg38UCSC Ensembl
chr9:72091267..72120277hg19UCSC Ensembl
chr9:71281087..71310097hg18UCSC Ensembl
Cytoband9q21.11
Allele length
AssemblyAllele length
hg3829011
hg1929011
hg1829011
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv2761265, esv2764174
SamplesRW_0503, RW_0334, SW_0803, SW_1064, SW_1018, RW_0319, RW_0593, RW_0143, RW_0643, SW_1523, RW_0169, RW_0640, SW_0171, RW_0025
Known GenesAPBA1
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)dgv165e203
Frequency
Sample Size1109
Observed Gain2
Observed Loss12
Observed Complex0
Frequencyn/a


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