A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2763959



Internal ID10031309
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:31385552..31492443hg38UCSC Ensembl
Innerchr6:31353329..31460220hg19UCSC Ensembl
Innerchr6:31461308..31568199hg18UCSC Ensembl
Cytoband6p21.33
Allele length
AssemblyAllele length
hg38106892
hg19106892
hg18106892
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7032047, essv7032044, essv7032046, essv7032048
SamplesSW_1023, SW_1435, SW_1252, SW_1475
Known GenesHCG26, HCP5, MICA
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)esv2763959
Frequency
Sample Size1109
Observed Gain1
Observed Loss3
Observed Complex0
Frequencyn/a


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