A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7003270



Internal ID10025685
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:20646785..20803509hg38UCSC Ensembl
Innerchr19:20829591..20986315hg19UCSC Ensembl
Innerchr19:20621431..20778155hg18UCSC Ensembl
Cytoband19p12
Allele length
AssemblyAllele length
hg38156725
hg19156725
hg18156725
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2763043
Supporting Variants
SamplesSW_1439
Known GenesZNF626
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)essv7003270
Frequency
Sample Size1109
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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