A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3391984



Internal ID15238949
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:54536717..54536729hg38UCSC Ensembl
Innerchr12:54536694..54536752hg38UCSC Ensembl
Outerchr12:54536682..54536764hg38UCSC Ensembl
chr12:54930501..54930513hg19UCSC Ensembl
Innerchr12:54930478..54930536hg19UCSC Ensembl
Outerchr12:54930466..54930548hg19UCSC Ensembl
chr12:53216768..53216780hg18UCSC Ensembl
Innerchr12:53216803..53216745hg18UCSC Ensembl
Outerchr12:53216733..53216815hg18UCSC Ensembl
Cytoband12q13.2
Allele length
AssemblyAllele length
hg3853
hg1953
hg1853
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7865578
SamplesNA12005
Known GenesNCKAP1L
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3391984
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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