A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3428840



Internal ID14929110
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:7149589..7151387hg38UCSC Ensembl
Innerchr12:7150387..7150589hg38UCSC Ensembl
Outerchr12:7148589..7152387hg38UCSC Ensembl
chr12:7302185..7303983hg19UCSC Ensembl
Innerchr12:7302983..7303185hg19UCSC Ensembl
Outerchr12:7301185..7304983hg19UCSC Ensembl
chr12:7193452..7195250hg18UCSC Ensembl
Innerchr12:7194452..7194250hg18UCSC Ensembl
Outerchr12:7192452..7196250hg18UCSC Ensembl
Cytoband12p13.31
Allele length
AssemblyAllele length
hg381799
hg191799
hg181799
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8688736
SamplesNA19239
Known GenesCLSTN3
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3428840
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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