A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2763990



Internal ID10031340
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:52758321..52797896hg38UCSC Ensembl
Innerchr6:52623119..52662694hg19UCSC Ensembl
Innerchr6:52731078..52770653hg18UCSC Ensembl
Cytoband6p12.1
Allele length
AssemblyAllele length
hg3839576
hg1939576
hg1839576
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7032092, essv7032091, essv7032093
SamplesSW_0048, SW_1520, SW_1208
Known GenesGSTA1, GSTA2
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)esv2763990
Frequency
Sample Size1109
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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