A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2763703



Internal ID10031053
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:38955461..39034450hg38UCSC Ensembl
Innerchr22:39351466..39430455hg19UCSC Ensembl
Innerchr22:37681412..37760401hg18UCSC Ensembl
Cytoband22q13.1
Allele length
AssemblyAllele length
hg3878990
hg1978990
hg1878990
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7004794, essv7004766, essv7004802, essv7004777, essv7004796, essv7004797, essv7004762, essv7004784, essv7004806, essv7004798, essv7004776, essv7004771, essv7004795, essv7004787, essv7004788, essv7004768, essv7004812, essv7004763, essv7004804, essv7004786, essv7004785, essv7004808, essv7004769, essv7004781, essv7004803, essv7004783, essv7004791, essv7004772, essv7004774, essv7004813, essv7004790, essv7004799, essv7004782, essv7004809, essv7004779, essv7004810, essv7004773, essv7004770, essv7004761, essv7004793, essv7004780, essv7004760, essv7004807, essv7004792, essv7004765, essv7004801, essv7004759, essv7004758, essv7004805, essv7004775, essv7004764
SamplesSW_0370, SW_0832, SW_1170, SW_0142, SW_1115, SW_0635, SW_1111, SW_0885, SW_1056, SW_0623, SW_1105, SW_0762, SW_1184, SW_1078, SW_0647, SW_0581, SW_1302, SW_0816, SW_1106, SW_1361, SW_1285, SW_0295, SW_0376, SW_1153, SW_0817, SW_1009, SW_1289, SW_1212, SW_1131, SW_1171, SW_1079, SW_0076, SW_0641, SW_1228, SW_1103, SW_0861, SW_1140, SW_0176, SW_1072, SW_0775, SW_0653, SW_1101, SW_1112, SW_1071, SW_0269, SW_0270, SW_0088, SW_1509, SW_1038, SW_1175, SW_0169
Known GenesAPOBEC3A, APOBEC3A_B, APOBEC3B, APOBEC3B-AS1, APOBEC3C, APOBEC3D
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)esv2763703
Frequency
Sample Size1109
Observed Gain0
Observed Loss51
Observed Complex0
Frequencyn/a


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