A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6990778



Internal ID10351784
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:21368583..21374460hg38UCSC Ensembl
Innerchr7:21408201..21414078hg19UCSC Ensembl
Innerchr7:21374726..21380603hg18UCSC Ensembl
Cytoband7p15.3
Allele length
AssemblyAllele length
hg385878
hg195878
hg185878
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2761309
Supporting Variants
SamplesSW_0015
Known Genes
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)essv6990778
Frequency
Sample Size1109
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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