A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15931333



Internal ID3664404
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:70504637..70657450hg38UCSC Ensembl
chr18:68171873..68324686hg19UCSC Ensembl
Cytoband18q22.2
Allele length
AssemblyAllele length
hg38152814
hg19152814
Variant TypeCNV gain
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3642989
Supporting Variants
SamplesHG03265
Known GenesGTSCR1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15931333
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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