A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6995080



Internal ID10014816
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:69790657..69824001hg38UCSC Ensembl
Innerchr10:71550413..71583757hg19UCSC Ensembl
Innerchr10:71220419..71253763hg18UCSC Ensembl
Cytoband10q21.3
Allele length
AssemblyAllele length
hg3833345
hg1933345
hg1833345
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2761603
Supporting Variants
SamplesSW_0889
Known GenesCOL13A1
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)essv6995080
Frequency
Sample Size1109
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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