A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15906747



Internal ID5737817
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:64002129..64285354hg38UCSC Ensembl
chr18:61669363..61952589hg19UCSC Ensembl
Cytoband18q22.1
Allele length
AssemblyAllele length
hg38283226
hg19283227
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3642789
Supporting Variants
SamplesNA19114
Known GenesLINC00305, LOC284294, LOC400654
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15906747
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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