A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2763196



Internal ID10030546
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:11604699..11644922hg38UCSC Ensembl
Innerchr19:11715514..11755737hg19UCSC Ensembl
Innerchr19:11576514..11616737hg18UCSC Ensembl
Cytoband19p13.2
Allele length
AssemblyAllele length
hg3840224
hg1940224
hg1840224
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7025290
SamplesRW_0106
Known GenesZNF627
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)esv2763196
Frequency
Sample Size1109
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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