A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3351798



Internal ID14852062
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:52792825..52792825hg38UCSC Ensembl
Innerchr18:52792824..52792826hg38UCSC Ensembl
Outerchr18:52792765..52792875hg38UCSC Ensembl
chr18:50319195..50319195hg19UCSC Ensembl
Innerchr18:50319194..50319196hg19UCSC Ensembl
Outerchr18:50319135..50319245hg19UCSC Ensembl
chr18:48573193..48573193hg18UCSC Ensembl
Innerchr18:48573194..48573192hg18UCSC Ensembl
Outerchr18:48573133..48573243hg18UCSC Ensembl
Cytoband18q21.2
Allele length
AssemblyAllele length
hg3855
hg1955
hg1855
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8820328
SamplesNA12878
Known GenesDCC
MethodSequencing
Analysis
Platform454
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3351798
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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