A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2764130



Internal ID10378166
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr9:1723376..1778025hg38UCSC Ensembl
Innerchr9:1723376..1778025hg19UCSC Ensembl
Innerchr9:1713376..1768025hg18UCSC Ensembl
Cytoband9p24.3
Allele length
AssemblyAllele length
hg3854650
hg1954650
hg1854650
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6993516, essv6993517
SamplesSW_1198, SW_1140
Known Genes
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)esv2764130
Frequency
Sample Size1109
Observed Gain1
Observed Loss1
Observed Complex0
Frequencyn/a


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