A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv38e203



Internal ID20126263
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:47754840..47817385hg38UCSC Ensembl
chr14:48224043..48286588hg19UCSC Ensembl
chr14:47293793..47356338hg18UCSC Ensembl
Cytoband14q21.3
Allele length
AssemblyAllele length
hg3862546
hg1962546
hg1862546
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv2761355, esv2760357
SamplesRW_0305, RW_0533, RW_0136, RW_0074, RW_0173, RW_0505, RW_0515, RW_0625, SW_0215, SW_1327, RW_0527, RW_0132, RW_0613, RW_0079, SW_0585, RW_0594
Known GenesLINC00648, MIR548Y
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)dgv38e203
Frequency
Sample Size1109
Observed Gain0
Observed Loss16
Observed Complex0
Frequencyn/a


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