A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6993194



Internal ID10362125
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:61605421..61961244hg38UCSC Ensembl
Innerchr8:62517980..62873803hg19UCSC Ensembl
Innerchr8:62680534..63036357hg18UCSC Ensembl
Cytoband8q12.3
Allele length
AssemblyAllele length
hg38355824
hg19355824
hg18355824
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2761430
Supporting Variants
SamplesSW_1026
Known GenesASPH, MIR4470
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)essv6993194
Frequency
Sample Size1109
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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