A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2761974



Internal ID10029324
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:68079782..68178765hg38UCSC Ensembl
Innerchr17:66075887..66174906hg19UCSC Ensembl
Innerchr17:63587524..63686501hg18UCSC Ensembl
Cytoband17q24.2
Allele length
AssemblyAllele length
hg3898984
hg1999020
hg1898978
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7002655
SamplesSW_0626
Known GenesLINC00674
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)esv2761974
Frequency
Sample Size1109
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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