A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15851825



Internal ID5853641
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:41206564..41755276hg38UCSC Ensembl
chr18:38786528..39335240hg19UCSC Ensembl
Cytoband18q12.3
Allele length
AssemblyAllele length
hg38548713
hg19548713
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3642318
Supporting Variants
SamplesHG02142
Known GenesKC6
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15851825
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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