A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2764077



Internal ID10378113
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:95811077..95852922hg38UCSC Ensembl
Innerchr8:96823305..96865150hg19UCSC Ensembl
Innerchr8:96892481..96934326hg18UCSC Ensembl
Cytoband8q22.1
Allele length
AssemblyAllele length
hg3841846
hg1941846
hg1841846
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6993263, essv6993262
SamplesSW_0086, SW_0634
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)esv2764077
Frequency
Sample Size1109
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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