A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3435715



Internal ID14935983
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:3272303..3272303hg38UCSC Ensembl
Innerchr18:3272302..3272304hg38UCSC Ensembl
Outerchr18:3272263..3272323hg38UCSC Ensembl
chr18:3272301..3272301hg19UCSC Ensembl
Innerchr18:3272300..3272302hg19UCSC Ensembl
Outerchr18:3272261..3272321hg19UCSC Ensembl
chr18:3262301..3262301hg18UCSC Ensembl
Innerchr18:3262302..3262300hg18UCSC Ensembl
Outerchr18:3262261..3262321hg18UCSC Ensembl
Cytoband18p11.31
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 Variantsessv8642937
Samples
Known GenesMYL12B
MethodSequencing
Analysis
Platform454
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3435715
Frequency
Sample Size185
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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