A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv93e203



Internal ID22760789
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr21:13053568..13968218hg38UCSC Ensembl
chr21:14425889..15340539hg19UCSC Ensembl
chr21:13347760..14262410hg18UCSC Ensembl
Cytoband21q11.2
Allele length
AssemblyAllele length
hg38914651
hg19914651
hg18914651
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv2760689, esv2763688
SamplesRW_0095, SW_0832, SW_1375, RW_0069, SW_1115, RW_0256, RW_0262, SW_1168, RW_0359, RW_0634, SW_1105, RW_0006, RW_0168, RW_0656, SW_0581, RW_0255, RW_0271, SW_1351, SW_0351, RW_0626, SW_0785, RW_0017, RW_0112, SW_0758, SW_1190, RW_0171, SW_1452, RW_0648, RW_0214, RW_0091, RW_0653, RW_0020, RW_0534, RW_0260, RW_0193, SW_1472, RW_0231, RW_0166, RW_0331, SW_0524, RW_0190, RW_0238, RW_0014, RW_0028, SW_1279, RW_0209, RW_0063, RW_0207, SW_1026, RW_0594, RW_0213, RW_0162, RW_0532
Known GenesANKRD20A11P, ANKRD30BP2, C21orf15, LOC100288966, MIR3156-3, MIR8069, POTED
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)dgv93e203
Frequency
Sample Size1109
Observed Gain11
Observed Loss43
Observed Complex0
Frequencyn/a


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