A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3435049



Internal ID15282003
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:75864509..75865607hg38UCSC Ensembl
Innerchr18:75864607..75865509hg38UCSC Ensembl
Outerchr18:75863509..75866607hg38UCSC Ensembl
chr18:73576464..73577562hg19UCSC Ensembl
Innerchr18:73576562..73577464hg19UCSC Ensembl
Outerchr18:73575464..73578562hg19UCSC Ensembl
chr18:71705452..71706550hg18UCSC Ensembl
Innerchr18:71706452..71705550hg18UCSC Ensembl
Outerchr18:71704452..71707550hg18UCSC Ensembl
Cytoband18q23
Allele length
AssemblyAllele length
hg381099
hg191099
hg181099
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1927e59
Supporting Variantsessv8691287
SamplesNA19240
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3435049
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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