A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv30e203



Internal ID22760726
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:31956878..31965910hg38UCSC Ensembl
chr13:32531015..32540047hg19UCSC Ensembl
chr13:31429015..31438047hg18UCSC Ensembl
Cytoband13q13.1
Allele length
AssemblyAllele length
hg389033
hg199033
hg189033
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv2761176, esv2760306
SamplesSW_1224, SW_0638, SW_1242, RW_0660, SW_0285, RW_0095, SW_1192, RW_0636, SW_0142, SW_1115, RW_0553, RW_0039, RW_0046, RW_0007, SW_1118, SW_1143, SW_0639, RW_0178, RW_0104, SW_1246, RW_0314, SW_0801, SW_0046, SW_0115, RW_0146, SW_0191, SW_1294, RW_0226, SW_0660, SW_0691, SW_0815, SW_0816, RW_0062, RW_0503, SW_0759, RW_0216, SW_0869, SW_1285, SW_0351, SW_1055, RW_0603, RW_0536, RW_0548, RW_0017, RW_0112, SW_0525, RW_0111, RW_0639, SW_0077, RW_0540, RW_0023, RW_0118, SW_1165, RW_0545, SW_1149, RW_0505, RW_0253, RW_0567, RW_0552, RW_0176, RW_0002, RW_0655, RW_0077, RW_0054, RW_0666, SW_1130, SW_1075, RW_0091, RW_0029, RW_0515, SW_0271, SW_0590, RW_0020, RW_0212, RW_0092, SW_0843, SW_0871, RW_0120, RW_0042, SW_1101, RW_0235, RW_0021, RW_0663, SW_0524, RW_0335, RW_0117, RW_0621, SW_0791, RW_0154, SW_0579, RW_0079, SW_0586, SW_0009, RW_0646, RW_0612, RW_0263, RW_0156, RW_0184, SW_0338, RW_0018, RW_0573, SW_1003, SW_0675, RW_0532
Known GenesEEF1DP3
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)dgv30e203
Frequency
Sample Size1109
Observed Gain0
Observed Loss104
Observed Complex0
Frequencyn/a


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