A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2763944



Internal ID10377980
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:32480321..32667519hg38UCSC Ensembl
Innerchr6:32448098..32635296hg19UCSC Ensembl
Innerchr6:32556076..32743274hg18UCSC Ensembl
Cytoband6p21.32
Allele length
AssemblyAllele length
hg38187199
hg19187199
hg18187199
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7032071, essv7032062, essv7032055, essv7032057, essv7032051, essv7032070, essv7032066, essv7032064, essv7032052, essv7032050, essv7032058, essv7032063, essv7032069, essv7032065, essv7032060, essv7032054, essv7032053, essv7032061, essv7032059, essv7032068
SamplesSW_0145, SW_1304, SW_1105, SW_1184, SW_1305, SW_1126, SW_1289, SW_1284, SW_0819, SW_1148, SW_0621, SW_1182, SW_1116, SW_0147, SW_1163, SW_0632, SW_0579, SW_0586, SW_1147, SW_0585
Known GenesHLA-DQA1, HLA-DQB1, HLA-DRB1, HLA-DRB5, HLA-DRB6
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)esv2763944
Frequency
Sample Size1109
Observed Gain18
Observed Loss2
Observed Complex0
Frequencyn/a


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