A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7024138



Internal ID10334730
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:6203793..6230686hg38UCSC Ensembl
Innerchr17:6107113..6134006hg19UCSC Ensembl
Innerchr17:6047837..6074730hg18UCSC Ensembl
Cytoband17p13.2
Allele length
AssemblyAllele length
hg3826894
hg1926894
hg1826894
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2760462
Supporting Variants
SamplesRW_0084
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)essv7024138
Frequency
Sample Size1109
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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