A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3589532



Internal ID6976860
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:247999450..248036782hg38UCSC Ensembl
chr1:248162752..248200084hg19UCSC Ensembl
Cytoband1q44
Allele length
AssemblyAllele length
hg3837333
hg1937333
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10374812, essv10374820, essv10374817, essv10374809, essv10374814, essv10374819, essv10374815, essv10374818, essv10374813, essv10374811, essv10374808, essv10374822, essv10374816, essv10374810, essv10374821
SamplesNA20877, HG03052, NA20878, NA20356, HG03499, HG02325, HG03369, HG03169, HG01879, HG02307, HG03397, HG03451, NA19712, HG02771, HG03401
Known GenesOR2L13, OR2L5
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3589532
Frequency
Sample Size2504
Observed Gain15
Observed Loss0
Observed Complex0
Frequencyn/a


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