A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7025877



Internal ID9994606
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:52159127..52200560hg38UCSC Ensembl
Innerchr19:52662380..52703813hg19UCSC Ensembl
Innerchr19:57354192..57395625hg18UCSC Ensembl
Cytoband19q13.33
Allele length
AssemblyAllele length
hg3841434
hg1941434
hg1841434
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2760529
Supporting Variants
SamplesRW_0239
Known GenesPPP2R1A, ZNF836
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)essv7025877
Frequency
Sample Size1109
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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