A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3589547



Internal ID6976875
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:248302695..248375523hg38UCSC Ensembl
chr1:248465997..248538824hg19UCSC Ensembl
Cytoband1q44
Allele length
AssemblyAllele length
hg3872829
hg1972828
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10376460
SamplesHG03397
Known GenesOR14C36, OR2M7, OR2T4
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3589547
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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