A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2764162



Internal ID10031512
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr9:4513839..4547412hg38UCSC Ensembl
Innerchr9:4513839..4547412hg19UCSC Ensembl
Innerchr9:4503839..4537412hg18UCSC Ensembl
Cytoband9p24.2
Allele length
AssemblyAllele length
hg3833574
hg1933574
hg1833574
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6993525, essv6993524
SamplesSW_1027, SW_1056
Known GenesSLC1A1
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)esv2764162
Frequency
Sample Size1109
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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