A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3587570



Internal ID6627872
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:152831474..152882955hg38UCSC Ensembl
chr1:152803950..152855431hg19UCSC Ensembl
Cytoband1q21.3
Allele length
AssemblyAllele length
hg3851482
hg1951482
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10149184
SamplesNA21107
Known GenesLCE6A, SMCP
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3587570
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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