A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2761938



Internal ID10374736
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:309346..424754hg38UCSC Ensembl
Innerchr17:159137..274545hg19UCSC Ensembl
Innerchr17:159137..274785hg18UCSC Ensembl
Cytoband17p13.3
Allele length
AssemblyAllele length
hg38115409
hg19115409
hg18115649
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7001500
SamplesSW_1064
Known GenesC17orf97, LOC100506388, RPH3AL
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)esv2761938
Frequency
Sample Size1109
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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