A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2763972



Internal ID10378008
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:153311602..153335740hg38UCSC Ensembl
Innerchr6:153632737..153656875hg19UCSC Ensembl
Innerchr6:153674430..153698568hg18UCSC Ensembl
Cytoband6q25.2
Allele length
AssemblyAllele length
hg3824139
hg1924139
hg1824139
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7033232, essv7033233
SamplesSW_1425, SW_1206
Known Genes
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)esv2763972
Frequency
Sample Size1109
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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