A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2764213



Internal ID10378249
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:42687777..42756256hg38UCSC Ensembl
Innerchr10:43183225..43251704hg19UCSC Ensembl
Innerchr10:42503231..42571710hg18UCSC Ensembl
Cytoband10q11.21
Allele length
AssemblyAllele length
hg3868480
hg1968480
hg1868480
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6994654, essv6994655, essv6994651, essv6994657, essv6994653, essv6994652
SamplesSW_1294, SW_0760, SW_1414, SW_1342, SW_1156, SW_1147
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)esv2764213
Frequency
Sample Size1109
Observed Gain4
Observed Loss2
Observed Complex0
Frequencyn/a


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