A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2763783



Internal ID10377819
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:152619570..152639216hg38UCSC Ensembl
Innerchr3:152337359..152357005hg19UCSC Ensembl
Innerchr3:153820049..153839695hg18UCSC Ensembl
Cytoband3q25.2
Allele length
AssemblyAllele length
hg3819647
hg1919647
hg1819647
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7027961, essv7027952, essv7027949, essv7027953, essv7027950, essv7027962, essv7027960, essv7027956, essv7027948, essv7027954, essv7027963, essv7027959, essv7027955, essv7027951, essv7027958
SamplesSW_1222, SW_0158, SW_0575, SW_0164, SW_0175, SW_1287, SW_1190, SW_1435, SW_1249, SW_1374, SW_1230, SW_1313, SW_1180, SW_0170, SW_1267
Known Genes
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)esv2763783
Frequency
Sample Size1109
Observed Gain0
Observed Loss15
Observed Complex0
Frequencyn/a


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