A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10373977



Internal ID375793
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 StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3589522
Supporting Variants
SamplesHG03499
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)essv10373977
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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