A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2762584



Internal ID10029934
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:31394533..31483699hg38UCSC Ensembl
Innerchr6:31362310..31451476hg19UCSC Ensembl
Innerchr6:31470289..31559455hg18UCSC Ensembl
Cytoband6p21.33
Allele length
AssemblyAllele length
hg3889167
hg1989167
hg1889167
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7013605
SamplesRW_0346
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)esv2762584
Frequency
Sample Size1109
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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