A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3429064



Internal ID14929334
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:36757891..36759589hg38UCSC Ensembl
Innerchr18:36758589..36758891hg38UCSC Ensembl
Outerchr18:36756891..36760589hg38UCSC Ensembl
chr18:34337854..34339552hg19UCSC Ensembl
Innerchr18:34338552..34338854hg19UCSC Ensembl
Outerchr18:34336854..34340552hg19UCSC Ensembl
chr18:32591852..32593550hg18UCSC Ensembl
Innerchr18:32592852..32592550hg18UCSC Ensembl
Outerchr18:32590852..32594550hg18UCSC Ensembl
Cytoband18q12.2
Allele length
AssemblyAllele length
hg381699
hg191699
hg181699
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8691195
SamplesNA19239
Known GenesFHOD3
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3429064
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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