A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2764001



Internal ID10031351
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:17009186..17370140hg38UCSC Ensembl
Innerchr7:17048810..17409764hg19UCSC Ensembl
Innerchr7:17015335..17376289hg18UCSC Ensembl
Cytoband7p21.1
Allele length
AssemblyAllele length
hg38360955
hg19360955
hg18360955
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6990767, essv6990766, essv6990769
SamplesSW_0862, SW_1168, SW_0819
Known GenesAHR
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)esv2764001
Frequency
Sample Size1109
Observed Gain1
Observed Loss2
Observed Complex0
Frequencyn/a


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