A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6994364



Internal ID10005086
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr9:116541782..116595630hg38UCSC Ensembl
Innerchr9:119304061..119357909hg19UCSC Ensembl
Innerchr9:118343882..118397730hg18UCSC Ensembl
Cytoband9q33.1
Allele length
AssemblyAllele length
hg3853849
hg1953849
hg1853849
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2761554
Supporting Variants
SamplesSW_0015
Known GenesASTN2, LOC100128505
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)essv6994364
Frequency
Sample Size1109
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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