A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2763988



Internal ID10031338
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:57048274..57087832hg38UCSC Ensembl
Innerchr6:56913072..56952630hg19UCSC Ensembl
Innerchr6:57021031..57060589hg18UCSC Ensembl
Cytoband6p12.1
Allele length
AssemblyAllele length
hg3839559
hg1939559
hg1839559
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7032113, essv7032111
SamplesSW_0663, SW_1163
Known GenesKIAA1586
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)esv2763988
Frequency
Sample Size1109
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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