A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6991980



Internal ID10021484
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:158590915..158624136hg38UCSC Ensembl
Innerchr7:158383607..158416828hg19UCSC Ensembl
Innerchr7:158076368..158109589hg18UCSC Ensembl
Cytoband7q36.3
Allele length
AssemblyAllele length
hg3833222
hg1933222
hg1833222
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2764036
Supporting Variants
SamplesSW_1257
Known GenesMIR5707
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)essv6991980
Frequency
Sample Size1109
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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