A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6994396



Internal ID10023941
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 loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2763913
Supporting Variants
SamplesSW_1367
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)essv6994396
Frequency
Sample Size1109
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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