A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2763913



Internal ID10031263
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:4918829..5279444hg38UCSC Ensembl
Innerchr10:4961021..5321407hg19UCSC Ensembl
Innerchr10:4951021..5311407hg18UCSC Ensembl
Cytoband10p15.1
Allele length
AssemblyAllele length
hg38360616
hg19360387
hg18360387
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6994398, essv6994397, essv6994396
SamplesSW_0790, SW_1367, SW_1063
Known GenesAKR1C1, AKR1C2, AKR1C3, AKR1C4, AKR1CL1
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)esv2763913
Frequency
Sample Size1109
Observed Gain2
Observed Loss1
Observed Complex0
Frequencyn/a


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