A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2763945



Internal ID10377981
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:8589292..8718891hg38UCSC Ensembl
Innerchr6:8589525..8719124hg19UCSC Ensembl
Innerchr6:8534524..8664123hg18UCSC Ensembl
Cytoband6p24.3
Allele length
AssemblyAllele length
hg38129600
hg19129600
hg18129600
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7031882, essv7031883
SamplesSW_0677, SW_1365
Known GenesHULC, LOC100506207
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)esv2763945
Frequency
Sample Size1109
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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