A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7005141



Internal ID9986543
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:16749972..16788217hg38UCSC Ensembl
Innerchr1:17076467..17114712hg19UCSC Ensembl
Innerchr1:16949054..16987299hg18UCSC Ensembl
Cytoband1p36.13
Allele length
AssemblyAllele length
hg3838246
hg1938246
hg1838246
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2764199
Supporting Variants
SamplesRW_0041
Known GenesMST1L
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)essv7005141
Frequency
Sample Size1109
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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