A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6994985



Internal ID10369681
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:62274926..62368374hg38UCSC Ensembl
Innerchr10:64034685..64128133hg19UCSC Ensembl
Innerchr10:63704691..63798139hg18UCSC Ensembl
Cytoband10q21.2
Allele length
AssemblyAllele length
hg3893449
hg1993449
hg1893449
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2761600
Supporting Variants
SamplesSW_1318
Known GenesLOC283045
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)essv6994985
Frequency
Sample Size1109
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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