A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2763170



Internal ID10030520
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:42896968..42943614hg38UCSC Ensembl
Innerchr17:41048985..41095631hg19UCSC Ensembl
Innerchr17:38302511..38349157hg18UCSC Ensembl
Cytoband17q21.31
Allele length
AssemblyAllele length
hg3846647
hg1946647
hg1846647
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7024614
SamplesRW_0307
Known GenesG6PC, LINC00671
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)esv2763170
Frequency
Sample Size1109
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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