A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7000490



Internal ID10356893
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:2629667..2679700hg38UCSC Ensembl
Innerchr16:2679668..2729701hg19UCSC Ensembl
Innerchr16:2619669..2669702hg18UCSC Ensembl
Cytoband16p13.3
Allele length
AssemblyAllele length
hg3850034
hg1950034
hg1850034
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2762199
Supporting Variants
SamplesSW_0578
Known GenesERVK13-1, FLJ42627, LOC652276
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)essv7000490
Frequency
Sample Size1109
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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