A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7014576



Internal ID10347242
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:37891879..37896928hg38UCSC Ensembl
Innerchr7:37931481..37936530hg19UCSC Ensembl
Innerchr7:37898006..37903055hg18UCSC Ensembl
Cytoband7p14.1
Allele length
AssemblyAllele length
hg385050
hg195050
hg185050
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2761091
Supporting Variants
SamplesRW_0558
Known GenesNME8
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)essv7014576
Frequency
Sample Size1109
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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