A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12643423



Internal ID2645239
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:167256381..167320502hg38UCSC Ensembl
chr6:167669869..167733990hg19UCSC Ensembl
Cytoband6q27
Allele length
AssemblyAllele length
hg3864122
hg1964122
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3611655
Supporting Variants
SamplesHG03518
Known GenesUNC93A
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12643423
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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