A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3589522



Internal ID6629811
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:247708531..247996788hg38UCSC Ensembl
chr1:247871833..248160090hg19UCSC Ensembl
Cytoband1q44
Allele length
AssemblyAllele length
hg38288258
hg19288258
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10373969, essv10373975, essv10373972, essv10373967, essv10373978, essv10373979, essv10373973, essv10373976, essv10373968, essv10373977, essv10373974, essv10373971, essv10373970, essv10373966
SamplesNA19712, HG03401, HG03451, NA20356, HG03052, HG01879, HG03169, HG02325, HG03397, HG02771, HG02307, HG03363, HG03499, HG03369
Known GenesOR11L1, OR14A16, OR1C1, OR2AK2, OR2L13, OR2L1P, OR2L8, OR2T8, OR2W3, OR6F1, TRIM58
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3589522
Frequency
Sample Size2504
Observed Gain14
Observed Loss0
Observed Complex0
Frequencyn/a


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