A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2763768



Internal ID10377804
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:52989195..53011909hg38UCSC Ensembl
Innerchr3:53023211..53045925hg19UCSC Ensembl
Innerchr3:52998251..53020965hg18UCSC Ensembl
Cytoband3p21.1
Allele length
AssemblyAllele length
hg3822715
hg1922715
hg1822715
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7027153, essv7027145, essv7027203, essv7027183, essv7027143, essv7027212, essv7027149, essv7027223, essv7027141, essv7027204, essv7027198, essv7027205, essv7027197, essv7027207, essv7027226, essv7027210, essv7027169, essv7027151, essv7027161, essv7027170, essv7027184, essv7027217, essv7027200, essv7027173, essv7027216, essv7027219, essv7027182, essv7027171, essv7027180, essv7027154, essv7027194, essv7027185, essv7027140, essv7027199, essv7027189, essv7027177, essv7027227, essv7027209, essv7027165, essv7027225, essv7027172, essv7027162, essv7027206, essv7027163, essv7027228, essv7027208, essv7027220, essv7027158, essv7027166, essv7027229, essv7027214, essv7027215, essv7027192, essv7027193, essv7027221, essv7027147, essv7027148, essv7027164, essv7027201, essv7027211, essv7027188, essv7027175, essv7027174, essv7027222, essv7027144, essv7027155, essv7027159, essv7027167, essv7027142, essv7027156, essv7027181, essv7027178, essv7027218, essv7027186, essv7027176, essv7027196, essv7027187, essv7027150, essv7027160, essv7027152, essv7027195
SamplesSW_1000, SW_0255, SW_1027, SW_0370, SW_1427, SW_0240, SW_1081, SW_1166, SW_0623, SW_0620, SW_0072, SW_1188, SW_1141, SW_0773, SW_0063, SW_0607, SW_1464, SW_0202, SW_0115, SW_1354, SW_1097, SW_0875, SW_1031, SW_1197, SW_0800, SW_0032, SW_1351, SW_0121, SW_1082, SW_0507, SW_0552, SW_1469, SW_1476, SW_1044, SW_0005, SW_0062, SW_1235, SW_0375, SW_1468, SW_1243, SW_0071, SW_1408, SW_1569, SW_1523, SW_0789, SW_1452, SW_1172, SW_1270, SW_0641, SW_1103, SW_1335, SW_1295, SW_0843, SW_0176, SW_1182, SW_1327, SW_0871, SW_1089, SW_1378, SW_1306, SW_0833, SW_1345, SW_1068, SW_0186, SW_0088, SW_0018, SW_0872, SW_1240, SW_0791, SW_0049, SW_0170, SW_0160, SW_1137, SW_0256, SW_0717, SW_1386, SW_1279, SW_1038, SW_0603, SW_0585, SW_0197
Known GenesSFMBT1
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)esv2763768
Frequency
Sample Size1109
Observed Gain0
Observed Loss81
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer