A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2761605



Internal ID10028958
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:76536166..76542455hg38UCSC Ensembl
Innerchr10:78295924..78302213hg19UCSC Ensembl
Innerchr10:77965930..77972219hg18UCSC Ensembl
Cytoband10q22.3
Allele length
AssemblyAllele length
hg386290
hg196290
hg186290
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6995082
SamplesSW_1073
Known GenesC10orf11
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)esv2761605
Frequency
Sample Size1109
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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