A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2761575



Internal ID10028928
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:13581531..13659502hg38UCSC Ensembl
Innerchr10:13623531..13701502hg19UCSC Ensembl
Innerchr10:13663537..13741508hg18UCSC Ensembl
Cytoband10p13
Allele length
AssemblyAllele length
hg3877972
hg1977972
hg1877972
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6994437
SamplesSW_1475
Known GenesFRMD4A, PRPF18
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)esv2761575
Frequency
Sample Size1109
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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